Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
A subclass of closely-related SOX transcription factors. Members of this subfamily have been implicated in regulating the differentiation of OLIGODENDROCYTES during neural crest formation and in CHONDROGENESIS.
A basic helix-loop-helix leucine zipper transcription factor that regulates the CELL DIFFERENTIATION and development of a variety of cell types including MELANOCYTES; OSTEOCLASTS; and RETINAL PIGMENT EPITHELIUM. Mutations in MITF protein have been associated with OSTEOPETROSIS and WAARDENBURG SYNDROME.
Pigmentation disorders are conditions that affect the production or distribution of melanin, the pigment responsible for skin, hair, and eye color, leading to changes in the color of these bodily features.
A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.
A family of transcription factors that control EMBRYONIC DEVELOPMENT within a variety of cell lineages. They are characterized by a highly conserved paired DNA-binding domain that was first identified in DROSOPHILA segmentation genes.
A 21-amino acid peptide that circulates in the plasma, but its source is not known. Endothelin-3 has been found in high concentrations in the brain and may regulate important functions in neurons and astrocytes, such as proliferation and development. It also is found throughout the gastrointestinal tract and in the lung and kidney. (N Eng J Med 1995;333(6):356-63)
Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (IRIS DISEASES) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.
A general term for the complete loss of the ability to hear from both ears.
A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain.
Diseases, dysfunctions, or disorders of or located in the iris.
A characteristic symptom complex.
A family of low-molecular weight, non-histone proteins found in chromatin.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The two longitudinal ridges along the PRIMITIVE STREAK appearing near the end of GASTRULATION during development of nervous system (NEURULATION). The ridges are formed by folding of NEURAL PLATE. Between the ridges is a neural groove which deepens as the fold become elevated. When the folds meet at midline, the groove becomes a closed tube, the NEURAL TUBE.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Mammalian pigment cells that produce MELANINS, pigments found mainly in the EPIDERMIS, but also in the eyes and the hair, by a process called melanogenesis. Coloration can be altered by the number of melanocytes or the amount of pigment produced and stored in the organelles called MELANOSOMES. The large non-mammalian melanin-containing cells are called MELANOPHORES.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Biochemical identification of mutational changes in a nucleotide sequence.
Congenital absence of the eye or eyes.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness. (1/92)

Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by a combination of pigmentary and auditory abnormalities. Approximately 20% of WS2 cases are associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF). MITF plays a critical role in the development of both neural-crest-derived melanocytes and optic cup-derived retinal pigmented epithelium (RPE); the loss of a functional Mitf in mice results in complete absence of all pigment cells, which in turn induces microphthalmia and inner ear deafness. The black-eyed white Mitf mi-bw homozygous mouse normally has a pigmented RPE but lacks melanocytes essential for the pigmentation of the body and hearing. We show here that Mitf mi-bw is caused by an insertion into intron 3 of a 7.2 kb novel L1 element, L1bw, which belongs to an actively retrotransposing TF subfamily. The L1bw insertion reduces the amount of mRNAs for two Mitf isoforms, Mitf-A and Mitf-H, by affecting their overall expression levels and pre-mRNA splicing patterns, while it abolishes mRNA expression of another isoform, Mitf-M, which is specifically expressed in neural-crest-derived melanocytes. The consequence of the L1 insertion in the black-eyed white Mitf mi-bw mouse is that the developmental programme for RPE cells proceeds normally, most likely because of the presence of residual, full-length Mitf-A and Mitf-H proteins, whereas the lack of Mitf-M results in loss of the melanocyte population. The results suggest that melanocyte development depends critically on a single Mitf isoform, Mitf-M, and raise the possibility that specific mutations affecting MITF-M, the human equivalent of Mitf-M, may be responsible for a subset of WS2 conditions.  (+info)

Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. (2/92)

MITF (microphthalmia-associated transcription factor) is a basic-helix-loop-helix-leucine zipper (bHLHZip) factor which regulates expression of tyrosinase and other melanocytic genes via a CATGTG promoter sequence, and is involved in melanocyte differentiation. Mutations of MITF in mice or humans with Waardenburg syndrome type 2 (WS2) often severely disrupt the bHLHZip domain, suggesting the importance of this structure. Here, we show that Ser298, which locates downstream of the bHLHZip and was previously found to be mutated in individuals with WS2, plays an important role in MITF function. Glycogen synthase kinase 3 (GSK3) was found to phosphorylate Ser298 in vitro, thereby enhancing the binding of MITF to the tyrosinase promoter. The same serine was found to be phosphorylated in vivo, and expression of dominant-negative GSK3beta selectively suppressed the ability of MITF to transactivate the tyrosinase promoter. Moreover, mutation of Ser298, as found in a WS2 family, disabled phos-phorylation of MITF by GSK3beta and impaired MITF function. These findings suggest that the Ser298 is important for MITF function and is phosphorylated probably by GSK3beta.  (+info)

Waardenburg syndrome with anisocoria and exotropia. (3/92)

A case of Waardenburg syndrome with unusual features such as anisocoria, exotropia is reported.  (+info)

Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters. (4/92)

Microphthalmia-associated transcription factor (MITF) affects the development of many types of cells, including melanocytes and retinal pigment epithelium (RPE). MITF consists of at least three isoforms, MITF-A, MITF-H and MITF-M, differing at their amino-termini and expression patterns. Here, we characterize the structural organization of the human MITF gene. The gene contains at least four isoform-specific first exons, exons 1A, 1H, 1B and 1M in the 5' to 3' direction, each of which encodes the unique amino-terminus of a given isoform, including newly identified MITF-B. The 5'-flanking regions of these isoform-specific exons are termed promoters A, H, B and M, respectively, which showed different promoter activities, as judged by transient transfection assay. Promoter A directs the expression of a reporter gene in RPE, cervical cancer and melanoma cells, whereas promoter M is functional only in melanoma cells. Promoter H showed the significant activity in RPE and cervical cancer cells but not in melanoma cells. In contrast, the 1.7 kb 5'-flanking region of exon 1B showed no noticeable promoter activity in these cell lines. Therefore, alternative promoters provide the MITF gene with the diversity in transcriptional regulation and the capability of generating structurally different protein isoforms.  (+info)

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. (5/92)

Waardenburg syndrome type 4 (WS4), also called Shah-Waardenburg syndrome, is a rare neurocristopathy that results from the absence of melanocytes and intrinsic ganglion cells of the terminal hindgut. WS4 is inherited as an autosomal recessive trait attributable to EDN3 or EDNRB mutations. It is inherited as an autosomal dominant condition when SOX10 mutations are involved. We report on three unrelated WS4 patients with growth retardation and an as-yet-unreported neurological phenotype with impairment of both the central and autonomous nervous systems and occasionally neonatal hypotonia and arthrogryposis. Each of the three patients was heterozygous for a SOX10 truncating mutation (Y313X in two patients and S251X [corrected] in one patient). The extended spectrum of the WS4 phenotype is relevant to the brain expression of SOX10 during human embryonic and fetal development. Indeed, the expression of SOX10 in human embryo was not restricted to neural-crest-derived cells but also involved fetal brain cells, most likely of glial origin. These data emphasize the important role of SOX10 in early development of both neural-crest-derived tissues, namely melanocytes, autonomic and enteric nervous systems, and glial cells of the central nervous system.  (+info)

Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. (6/92)

Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation and variable penetrance. Only one family has been reported with the exact features described in the original report of this syndrome. This family was reascertained and a missense mutation was found in the basic region of the MITF gene in family members with Tietz syndrome. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2), which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2.  (+info)

Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. (7/92)

The absence of melanocytes from the cochlea and epidermis is responsible of deafness and hypopigmentation, two symptoms shared by the four Waardenburg syndrome (WS) subtypes. Microphthalmia-associated transcription factor (MITF) controls melanocyte survival and differentiation. Mutations, which impair MITF function or expression, result in an abnormal melanocyte development leading to the WS2. WS1 and WS3 are caused by mutation in the gene encoding the transcription factor Pax3, which regulates MITF expression. Recently, mutations in SOX10, a gene encoding a SRY-related transcription factor, have been reported in patients with WS4. However, the molecular basis of the defective melanocyte development in these patients remained to be elucidated. In the present report, we demonstrate that Sox10 is a strong activator of the MITF promoter, and we identify a Sox10 binding site between -264 and -266 of the MITF promoter. Finally, we show that three SOX10 mutations found in WS4 abolish the transcriptional activity of the resulting Sox10 proteins toward the MITF promoter. Taken together, our observations bring new and meaningful information concerning the molecular process that leads to a defective melanocyte development in WS4 patients with SOX10 mutations.  (+info)

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. (8/92)

Waardenburg syndrome (WS) is an autosomal dominant disorder with an incidence of 1 in 40 000 that manifests with sensorineural deafness and pigmentation defects. It is classified into four types depending on the presence or absence of additional symptoms. WS1 and WS3 are due to mutations in the PAX3 gene whereas some WS2 cases are associated with mutations in the microphthalmia-associated transcription factor (MITF) gene. The WS4 phenotype can result from mutations in the endothelin-B receptor gene (EDNRB), in the gene for its ligand, endothelin-3 (EDN3), or in the SOX10 gene. PAX3 has been shown to regulate MITF gene expression. The recent implication of SOX10 in WS4 prompted us to test whether this transcription factor, known to cooperate in vitro with PAX3, is also able to regulate expression from the MITF promoter. Here we show that SOX10, in synergy with PAX3, strongly activates MITF expression in transfection assays. Analyses revealed that PAX3 and SOX10 interact directly by binding to a proximal region of the MITF promoter containing binding sites for both factors. Moreover, SOX10 or PAX3 mutant proteins fail to transactivate this promoter, providing further evidence that the two genes act in concert to directly regulate expression of MITF. In situ hybridization experiments carried out in the dominant megacolon (DOM:) mouse, confirmed that SOX10 dysfunction impairs MITF: expression as well as melanocytic development and survival. These experiments, which demonstrate an interaction between three of the genes that are altered in WS, could explain the auditory-pigmentary symptoms of this disease.  (+info)

Waardenburg Syndrome is a genetic disorder that affects the development of melanin, a pigment responsible for hair, skin, and eye color. Named after the Dutch ophthalmologist Petrus Waardenburg who first described it in 1907, this syndrome is characterized by distinctive physical features and hearing loss.

There are four types of Waardenburg Syldrome (WS1, WS2, WS3, and WS4), each with varying degrees of symptoms. Common features include:

1. Differential coloring of the hair, skin, and eyes (poliosis, vitiligo, and heterochromia)
2. Distinctive facial features (wide-set eyes, broad nasal root, and a high arched or cleft palate)
3. Hearing loss, which can be unilateral (one-sided) or bilateral (both-sided), conductive, sensorineural, or mixed
4. Pigmentary changes in the iris, such as different colors between the eyes or within one eye
5. Sometimes, musculoskeletal abnormalities and/or developmental delays

WS1 and WS2 are more common than WS3 and WS4. The genetic causes of Waardenburg Syndrome involve mutations in several different genes associated with melanin production and transport. These include PAX3, MITF, SNAI2, EDN3, and EDNRB.

Diagnosis is typically based on clinical findings, including physical features and hearing tests. Genetic testing can confirm the diagnosis and help determine the specific type of Waardenburg Syndrome. Treatment usually involves addressing individual symptoms, such as using hearing aids or cochlear implants for hearing loss and managing any skin or eye concerns.

SOXE transcription factors are a subgroup of the SOX (SRY-related HMG box) family of proteins, which are involved in various developmental processes, including cell fate specification and differentiation. The SOXE group includes SOX8, SOX9, and SOX10, all of which contain a conserved high mobility group (HMG) box DNA-binding domain. They play crucial roles in the development of several tissues, such as the nervous system, skeletal system, and urogenital system.

SOXE transcription factors are known to regulate gene expression by binding to specific DNA sequences, often acting in combination with other transcription factors to control various cellular processes. Dysregulation of SOXE transcription factors has been implicated in several human diseases, including cancer and neurodevelopmental disorders.

The Microphthalmia-Associated Transcription Factor (MITF) is a protein that functions as a transcription factor, which means it regulates the expression of specific genes. It belongs to the basic helix-loop-helix leucine zipper (bHLH-Zip) family of transcription factors and plays crucial roles in various biological processes such as cell growth, differentiation, and survival.

MITF is particularly well-known for its role in the development and function of melanocytes, the pigment-producing cells found in the skin, eyes, and inner ear. It regulates the expression of genes involved in melanin synthesis and thus influences hair and skin color. Mutations in the MITF gene have been associated with certain eye disorders, including microphthalmia (small or underdeveloped eyes), iris coloboma (a gap or hole in the iris), and Waardenburg syndrome type 2A (an inherited disorder characterized by hearing loss and pigmentation abnormalities).

In addition to its role in melanocytes, MITF also plays a part in the development and function of other cell types, including osteoclasts (cells involved in bone resorption), mast cells (immune cells involved in allergic reactions), and retinal pigment epithelial cells (a type of cell found in the eye).

Pigmentation disorders are conditions that affect the production or distribution of melanin, the pigment responsible for the color of skin, hair, and eyes. These disorders can cause changes in the color of the skin, resulting in areas that are darker (hyperpigmentation) or lighter (hypopigmentation) than normal. Examples of pigmentation disorders include melasma, age spots, albinism, and vitiligo. The causes, symptoms, and treatments for these conditions can vary widely, so it is important to consult a healthcare provider for an accurate diagnosis and treatment plan.

Hypopigmentation is a medical term that refers to a condition where there is a decrease in the amount of pigment (melanin) in the skin, resulting in lighter patches or spots on the skin. This can occur due to various reasons such as skin injuries, certain skin disorders like vitiligo, fungal infections, burns, or as a side effect of some medical treatments like chemotherapy or radiation therapy. It is different from albinism, which is a genetic condition where the body is unable to produce melanin at all.

Paired box (PAX) transcription factors are a group of proteins that regulate gene expression during embryonic development and in some adult tissues. They are characterized by the presence of a paired box domain, a conserved DNA-binding motif that recognizes specific DNA sequences. PAX proteins play crucial roles in various developmental processes, such as the formation of the nervous system, eyes, and pancreas. Dysregulation of PAX genes has been implicated in several human diseases, including cancer.

Endothelin-3 (ET-3) is a member of the endothelin family, which are small peptides with potent vasoconstrictor properties. ET-3 is primarily produced by neurons in the central and peripheral nervous system, and it plays important roles in the development and regulation of various physiological functions, including cardiovascular function, neurotransmission, and cell proliferation.

ET-3 exerts its effects by binding to specific G protein-coupled receptors, known as endothelin A (ETA) and endothelin B (ETB) receptors. These receptors are widely distributed throughout the body, including in the cardiovascular, respiratory, gastrointestinal, and genitourinary systems.

In addition to its role as a potent vasoconstrictor, ET-3 has been implicated in various pathological conditions, such as hypertension, heart failure, pulmonary arterial hypertension, and cancer. In recent years, there has been growing interest in the potential therapeutic use of endothelin receptor antagonists to treat these conditions.

Hirschsprung disease is a gastrointestinal disorder that affects the large intestine, specifically the section known as the colon. This condition is congenital, meaning it is present at birth. It occurs due to the absence of ganglion cells (nerve cells) in the bowel's muscular wall, which are responsible for coordinating muscle contractions that move food through the digestive tract.

The affected segment of the colon cannot relax and propel the contents within it, leading to various symptoms such as constipation, intestinal obstruction, or even bowel perforation in severe cases. Common diagnostic methods include rectal suction biopsy, anorectal manometry, and contrast enema studies. Treatment typically involves surgical removal of the aganglionic segment and reattachment of the normal colon to the anus (known as a pull-through procedure).

Anisocoria is a medical term that refers to an inequality in the size of the pupils in each eye. The pupil is the black, circular opening in the center of the iris (the colored part of the eye) that allows light to enter and strike the retina. Normally, the pupils are equal in size and react similarly when exposed to light or darkness. However, in anisocoria, one pupil is larger or smaller than the other.

Anisocoria can be caused by various factors, including neurological conditions, trauma, eye diseases, or medications that affect the pupillary reflex. In some cases, anisocoria may be a normal variant and not indicative of any underlying medical condition. However, if it is a new finding or associated with other symptoms such as pain, headache, vision changes, or decreased level of consciousness, it should be evaluated by a healthcare professional to determine the cause and appropriate treatment.

Deafness is a hearing loss that is so severe that it results in significant difficulty in understanding or comprehending speech, even when using hearing aids. It can be congenital (present at birth) or acquired later in life due to various causes such as disease, injury, infection, exposure to loud noises, or aging. Deafness can range from mild to profound and may affect one ear (unilateral) or both ears (bilateral). In some cases, deafness may be accompanied by tinnitus, which is the perception of ringing or other sounds in the ears.

Deaf individuals often use American Sign Language (ASL) or other forms of sign language to communicate. Some people with less severe hearing loss may benefit from hearing aids, cochlear implants, or other assistive listening devices. Deafness can have significant social, educational, and vocational implications, and early intervention and appropriate support services are critical for optimal development and outcomes.

Laryngomalacia is a common condition in infants characterized by soft, floppy tissues (folds) in the upper part of the windpipe (larynx) just above the vocal cords. These tissues are known as the aryepiglottic folds and the epiglottis. In laryngomalacia, these tissues are unusually soft and may prolapse or fall into the airway when an infant inhales, causing stridor (noisy breathing) or other symptoms. It's usually not a serious condition and often resolves on its own as the child grows and the tissues become stiffer. However, in some cases, it can lead to feeding difficulties, poor weight gain, or breathing problems that may require medical intervention.

Iris diseases refer to a variety of conditions that affect the iris, which is the colored part of the eye that regulates the amount of light reaching the retina by adjusting the size of the pupil. Some common iris diseases include:

1. Iritis: This is an inflammation of the iris and the adjacent tissues in the eye. It can cause pain, redness, photophobia (sensitivity to light), and blurred vision.
2. Aniridia: A congenital condition characterized by the absence or underdevelopment of the iris. This can lead to decreased visual acuity, sensitivity to light, and an increased risk of glaucoma.
3. Iris cysts: These are fluid-filled sacs that form on the iris. They are usually benign but can cause vision problems if they grow too large or interfere with the function of the eye.
4. Iris melanoma: A rare type of eye cancer that develops in the pigmented cells of the iris. It can cause symptoms such as blurred vision, floaters, and changes in the appearance of the iris.
5. Iridocorneal endothelial syndrome (ICE): A group of rare eye conditions that affect the cornea and the iris. They are characterized by the growth of abnormal tissue on the back surface of the cornea and can lead to vision loss.

It is important to seek medical attention if you experience any symptoms of iris diseases, as early diagnosis and treatment can help prevent complications and preserve your vision.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

High mobility group proteins (HMG proteins) are a family of nuclear proteins that are characterized by their ability to bind to DNA and influence its structure and function. They are named "high mobility" because of their rapid movement in gel electrophoresis. HMG proteins are involved in various nuclear processes, including chromatin remodeling, transcription regulation, and DNA repair.

There are three main classes of HMG proteins: HMGA, HMGB, and HMGN. Each class has distinct structural features and functions. For example, HMGA proteins have a unique "AT-hook" domain that allows them to bind to the minor groove of AT-rich DNA sequences, while HMGB proteins have two "HMG-box" domains that enable them to bend and unwind DNA.

HMG proteins play important roles in many physiological and pathological processes, such as embryonic development, inflammation, and cancer. Dysregulation of HMG protein function has been implicated in various diseases, including neurodegenerative disorders, diabetes, and cancer. Therefore, understanding the structure, function, and regulation of HMG proteins is crucial for developing new therapeutic strategies for these diseases.

Human chromosome pair 2 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. Chromosomes are the physical carriers of inheritance, and human cells typically contain 23 pairs of chromosomes for a total of 46 chromosomes.

Chromosome pair 2 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 2 is approximately 247 million base pairs in length and contains an estimated 1,000-1,300 genes. These genes play crucial roles in various biological processes, including development, metabolism, and response to environmental stimuli.

Abnormalities in chromosome pair 2 can lead to genetic disorders, such as cat-eye syndrome (CES), which is characterized by iris abnormalities, anal atresia, hearing loss, and intellectual disability. This disorder arises from the presence of an extra copy of a small region on chromosome 2, resulting in partial trisomy of this region. Other genetic conditions associated with chromosome pair 2 include proximal 2q13.3 microdeletion syndrome and Potocki-Lupski syndrome (PTLS).

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

The neural crest is a transient, multipotent embryonic cell population that originates from the ectoderm (outermost layer) of the developing neural tube (precursor to the central nervous system). These cells undergo an epithelial-to-mesenchymal transition and migrate throughout the embryo, giving rise to a diverse array of cell types and structures.

Neural crest cells differentiate into various tissues, including:

1. Peripheral nervous system (PNS) components: sensory neurons, sympathetic and parasympathetic ganglia, and glial cells (e.g., Schwann cells).
2. Facial bones and cartilage, as well as connective tissue of the skull.
3. Melanocytes, which are pigment-producing cells in the skin.
4. Smooth muscle cells in major blood vessels, heart, gastrointestinal tract, and other organs.
5. Secretory cells in endocrine glands (e.g., chromaffin cells of the adrenal medulla).
6. Parts of the eye, such as the cornea and iris stroma.
7. Dental tissues, including dentin, cementum, and dental pulp.

Due to their wide-ranging contributions to various tissues and organs, neural crest cells play a crucial role in embryonic development and organogenesis. Abnormalities in neural crest cell migration or differentiation can lead to several congenital disorders, such as neurocristopathies.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

Melanocytes are specialized cells that produce, store, and transport melanin, the pigment responsible for coloring of the skin, hair, and eyes. They are located in the bottom layer of the epidermis (the outermost layer of the skin) and can also be found in the inner ear and the eye's retina. Melanocytes contain organelles called melanosomes, which produce and store melanin.

Melanin comes in two types: eumelanin (black or brown) and pheomelanin (red or yellow). The amount and type of melanin produced by melanocytes determine the color of a person's skin, hair, and eyes. Exposure to UV radiation from sunlight increases melanin production as a protective response, leading to skin tanning.

Melanocyte dysfunction or abnormalities can lead to various medical conditions, such as albinism (lack of melanin production), melasma (excessive pigmentation), and melanoma (cancerous growth of melanocytes).

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Anophthalmos is a medical condition where an individual is born without one or both eyes. It is a congenital disorder, which means it is present at birth. In cases where only one eye is affected, it is called unilateral anophthalmos, and when both eyes are missing, it is referred to as bilateral anophthalmos.

Anophthalmos is different from microphthalmia, another congenital condition where the eye is present but abnormally small. In some cases, anophthalmos may be accompanied by other developmental anomalies or syndromes. The exact cause of anophthalmos is not always known, but it can be associated with genetic mutations or environmental factors that affect fetal development.

Individuals with anophthalmos require specialized medical care and management to ensure proper eye socket development, visual rehabilitation, and overall well-being. This may include the use of prosthetic eyes, orthoptic therapy, and other supportive measures.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Also known as Shah-Waardenburg syndrome, or Waardenburg-Shah syndrome, type 4 has most of the same features as type 2 (i.e. no ... Also known as Klein-Waardenburg syndrome, or Waardenburg-Klein syndrome, type 3 has the same symptoms as type 1 (and is caused ... "Orphanet: Waardenburg syndrome type 1". www.orpha.net. Retrieved 2019-12-10. "Waardenburg syndrome type II" (PDF). Orphanet. ... "Waardenburg syndrome". Genetics Home Reference. October 2012. "OMIM Entry - # 608890 - WAARDENBURG SYNDROME, TYPE 2D; WS2D". ...
... is a rare autosomal recessive genetic disorder which is characterized by either ... cause waardenburg anophthalmia syndrome". American Journal of Human Genetics. 88 (1): 92-98. doi:10.1016/j.ajhg.2010.12.002. ... Waardenburg Anophthalmia) syndrome in humans and mice". PLOS Genetics. 7 (7): e1002114. doi:10.1371/journal.pgen.1002114. ISSN ... Articles with short description, Short description is different from Wikidata, Genetic syndromes, Ophthalmology, Rare diseases ...
Similar to other types of Waardenburg Syndrome, Shah-Waardenburg Syndrome patients present with some facial features such the ... s disease and Waardenburg was then named Shah-Waardenburg Syndrome. The main cause of this syndrome is the mutation of the ... "Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B ... Waardenburg Syndrome Type 4A is an extremely rare congenital disorder caused by a mutation in an endothelin receptor gene. It ...
... , a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the ... displaying evidence of these mutations to the symptoms in the Waardenburg Syndrome Type 2D. In general, Waardenburg Syndrome ... "Waardenburg syndrome type 2 , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih. ... Type 2 of the Waardenburg Syndrome is defined by the abnormalities of auditory function and pigmentation in the hair, skin, and ...
Heterozygous mutation is the basis of the majority of Type 1 Waardenburg Syndrome mutations. Type 1 Waardenburg Syndrome is ... Waardenburg syndrome was first described by Petrus J Waardenburg in 1951 in the American Journal of Human Genetics. It is now ... Waardenburg Type 1 is estimated to cause 3% of overall congenital deaf children. Type 1 Waardenburg Syndrome is a dominant ... Waardenburg Syndrome Type 1 is a congenital disorder that caused by a mutation in the PAX3 gene that results in abnormal ...
doctor/1012 at Who Named It? Klein-Waardenburg syndrome at Who Named It? Waardenburg PJ (September 1951). "A new syndrome ... Waardenburg was a regular contributor to eugenics publications. In 1932 Waardenburg suggested that Down syndrome might be the ... He described the syndrome as a distinct entity and found the anomalies in 12 of 840 deaf mutes. Waardenburg was awarded the ... Waardenburg syndrome is named after him. Wardenburg studied medicine at the Utrecht University from 1904-11, and then trained ...
Mutations in the EDNRB gene are associated with ABCD syndrome and some forms of Waardenburg syndrome. Endothelin receptor ... Read AP, Newton VE (1997). "Waardenburg syndrome". J. Med. Genet. 34 (8): 656-65. doi:10.1136/jmg.34.8.656. PMC 1051028. PMID ... Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM (2002). "ABCD syndrome is caused by a homozygous mutation in the EDNRB ...
... cri du chat syndrome, Klinefelter syndrome, Turner syndrome, Ehlers-Danlos syndrome, Waardenburg syndrome often present with ... Tagra S, Talwar AK, Walia RL, Sidhu P (2006). "Waardenburg syndrome". Indian J Dermatol Venereol Leprol. 72 (4): 326. doi: ... Congenital disorders such as Down syndrome, fetal alcohol syndrome, ...
Lastly, type IV is also known as Waardenburg-Shah syndrome, and afflicted individuals display both Waardenburg's syndrome and ... "Genetic heterogeneity in the Waardenburg's syndrome". Birth Defects B. 07 (4): 87-101. PMID 5006208. "Waardenburg syndrome". ... Waardenburg-Shah syndrome, and DiGeorge syndrome. Therefore, defining the mechanisms of neural crest development may reveal key ... Overall, Waardenburg's syndrome is rare, with an incidence of ~ 2/100,000 people in the United States. All races and sexes are ...
It is associated with Waardenburg syndrome, which is due to mutation in PAX gene. Anatomy portal Animals portal Medicine portal ... Tagra S, Talwar AK, Walia RL, Sidhu P (2006). "Waardenburg syndrome". Indian J Dermatol Venereol Leprol. 72 (4): 326. doi: ...
Tagra S, Talwar AK, Walia RL, Sidhu P (2006). "Waardenburg syndrome". Indian J Dermatol Venereol Leprol. 72 (4): 326. doi: ... A flat nasal bridge can be a sign of Down syndrome (Trisomy 21), Fragile X syndrome, 48,XXXY variant Klinefelter syndrome, or ... Dystopia canthorum is associated with Waardenburg syndrome. Aquiline nose - Human nose with a prominent bridge Bridge piercing ... 40 Klinefelter Syndrome Clinical Presentation Genetic Hearing Loss Archived 2013-02-17 at the Wayback Machine from UTMB, Dept. ...
This locus was first linked to Waardenburg syndrome in 2001, when a study of an Italian family with Waardenburg syndrome type 2 ... mutations in this region in Waardenburg syndrome patients have not been found since. "OMIM Entry - % 606662 - WAARDENBURG ... WS2C is a putative gene associated with Waardenburg syndrome type 2. It has not yet been isolated from its locus of chromosome ... "Cytogenetic mapping of a novel locus for type II Waardenburg syndrome". Human Genetics. 110 (1): 64-7. doi:10.1007/s00439-001- ...
Mutations in it can cause Waardenburg syndrome. PAX3 is frequently expressed in melanomas and contributes to tumor cell ... Mutation of PAX2 in humans has been associated with renal-coloboma syndrome as well as oligomeganephronia. PAX3 has been ...
doctor/1067 at Who Named It? Klein-Waardenburg syndrome at Who Named It? v t e v t e (Articles with ISNI identifiers, Articles ... Klein made important contributions towards the understanding of Waardenburg syndrome, or more fully, the "van der Hoeve- ... Halbertsma-Waardenburg-Klein syndrome". In August 1947 Klein presented a deaf mute child, who was 10 years of age, and had ...
"OMIM Entry - % 600193 - WAARDENBURG SYNDROME, TYPE 2B; WS2B". www.omim.org. Retrieved 2019-12-23. Hughes AE, Newton VE, Liu XZ ... WS2B is a putative gene associated with Waardenburg syndrome type 2. It has not yet been isolated from its locus of chromosome ... Lalwani AK, San Agustin TB, Wilcox ER (1994-09-01). "A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1". ... This locus was first linked to Waardenburg syndrome in 1994, when the study that first identified mutations in MITF in patients ...
Baldwin CT, Hoth CF, Macina RA, Milunsky A (August 1995). "Mutations in PAX3 that cause Waardenburg syndrome type I: ten new ... Germline mutations of the PAX3 gene occur in the human disease Waardenburg syndrome, which consists of four autosomal dominant ... Klein-Waardenburg syndrome) is frequently distinguished by musculoskeletal abnormalities affecting the upper limbs. Most WS1 ... "An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome". primary. Nature. 355 (6361): 637-8. Bibcode: ...
Van der Hoeve made one of the earliest descriptions of Waardenburg syndrome, in 1916. Van der Hoeve J (1920). "Eye symptoms in ... Song, J.; Feng, Y.; Acke, F. R.; Coucke, P.; Vleminckx, K.; Dhooge, I. J. (2016). "Hearing loss in Waardenburg syndrome: a ... He is recognised for his concept of the phakomatoses, often called neurocutaneous syndromes. Van der Hoeve graduated from the ...
Although few studies have been done to link this to genes known to be involved in human Waardenburg syndrome, a syndrome of ... Waardenburg syndrome type 2A (caused by a mutation in MITF) has been found in many other small mammals including dogs, minks ... Cat coat genetics Merle (dog coat) Pleiotropy Van cat Waardenburg syndrome Bosher, SK; Hallpike, CS (13 April 1965). " ... Omenn, Gilbert S.; McKusick, Victor A.; Gorlin, Robert J. (1979). "The association of Waardenburg syndrome and Hirschsprung ...
Jelena, B., Christina, L., Eric, V., & Fabiola, Q. R. (2014). Phenotypic variability in Waardenburg syndrome resulting from a ...
In some cases, piebaldism occurs together with severe developmental problems, as in Waardenburg syndrome and Hirschsprung's ... Waardenburg syndrome, and related disorders of melanocyte development". Seminars in Cutaneous Medicine and Surgery. 16 (1): 15- ... PAX3 Heterochromia iridum Leucism Melanism Piebald Poliosis Skewbald Vitiligo Waardenburg syndrome Xanthochromism "Piebaldism ...
Mutations in either gene are links to Waardenburg syndrome. The multigenic disorder, Hirschsprung disease type 2, is due to ... Shah-Waardenburg syndrome)". Nature Genetics. 12 (4): 445-7. doi:10.1038/ng0496-445. hdl:1765/54507. PMID 8630503. S2CID 935271 ... "Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome ... In horses, a mutation in the middle of the EDNRB gene, Ile118Lys, when homozygous, causes Lethal White Syndrome. In this ...
Waardenburg syndrome List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology ... Wende-Bauckus syndrome is a cutaneous condition characterized by tiny white macules on the trunk with confluence within ... Syndromes, All stub articles, Cutaneous condition stubs). ...
... and PAX3 interactions are thought to be regulators of other genes involved in the symptoms of Waardenburg syndrome, ... Mutations in this gene are associated with Waardenburg-Shah syndrome and uveal melanoma. SOX10 is used as an ... The interaction between SOX10 and PAX3 is studied best in human patients with Waardenburg syndrome, an autosomal dominant ... Jacobs JM, Wilson J (1992). "An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome". Acta Neuropathol. ...
Diseases associated with AEBP2 include Waardenburg's syndrome, and Hirschsprung's disease. GRCh38: Ensembl release 89: ...
... anterior; lenticonus anterior is part of the waardenburg syndrome Lenticonus posterior; lenticonus posterior is more ... common than lenticonus anterior and is sometimes found in Lowe syndrome Alport syndrome mostly causes anterior lenticonus. It ... corneal arcus juvenilis may be encountered in association with lenticonus anterior that occurs as a part of the Alport syndrome ...
Waardenburg syndrome; Patau syndrome; Smith-Lemli-Opitz syndrome; Sanfilippo syndrome; 3p deletion syndrome; Chromosome ... Deletion Dillan 4p Syndrome (Wolf-Hirschhorn syndrome); Gorlin syndrome (Basal Cell Nevus Syndrome); Cornelia de Lange Syndrome ... Chromosome 9q34 Microdeletion Syndrome or Kleefstra syndrome. 17q12 microduplication syndrome Glabella "confluent eyebrow". ... "Chromosome 3p- syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. ...
Congenital Horner's syndrome - sometimes inherited, although usually acquired. Waardenburg syndrome - a syndrome in which ... It can also be seen in ferrets with Waardenburg syndrome, although it can be very hard to tell at times as the eye color is ... Piebaldism - similar to Waardenburg's syndrome, a rare disorder of melanocyte development characterized by a white forelock and ... Parry-Romberg syndrome - due to tissue loss. Heterochromia has also been observed in those with Duane syndrome. Chronic iritis ...
Balance problems are also associated with some types of Waardenburg syndrome. Glossary of medical terms related to ... Waardenburg syndrome Hereditary disorder that is characterized by hearing impairment, a white shock of hair and/or distinctive ... Landau-Kleffner syndrome Childhood disorder of unknown origin which often extends into adulthood and can be identified by ... Meige syndrome Movement disorder that can involve excessive eye blinking (blepharospasm) with involuntary movements of the jaw ...
For example, mutations of MITF have been implicated in both Waardenburg syndrome and Tietz syndrome. Waardenburg syndrome is a ... Waardenburg syndrome, and Tietz syndrome. Its function is conserved across vertebrates, including in fishes such as zebrafish ... The shortage of melanocytes causes some of the characteristic features of Waardenburg syndrome.[citation needed] Tietz syndrome ... Kumar S, Rao K (May 2012). "Waardenburg syndrome: A rare genetic disorder, a report of two cases". Indian Journal of Human ...
Zlotogora J (November 1995). "X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis". Am. J. Med. ... Syndromes affecting the skin, Syndromes with sensorineural hearing loss, Rare genetic syndromes, All stub articles, Cutaneous ... It has been suggested that it is a form of Waardenburg syndrome type II. Albinism Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo ... Albinism-deafness syndrome is a condition characterized by congenital neural deafness and a severe or extreme piebald-like ...
Also known as Shah-Waardenburg syndrome, or Waardenburg-Shah syndrome, type 4 has most of the same features as type 2 (i.e. no ... Also known as Klein-Waardenburg syndrome, or Waardenburg-Klein syndrome, type 3 has the same symptoms as type 1 (and is caused ... "Orphanet: Waardenburg syndrome type 1". www.orpha.net. Retrieved 2019-12-10. "Waardenburg syndrome type II" (PDF). Orphanet. ... "Waardenburg syndrome". Genetics Home Reference. October 2012. "OMIM Entry - # 608890 - WAARDENBURG SYNDROME, TYPE 2D; WS2D". ...
This report describes a 4-day-old male newborn with Waardenburgs sy … ... Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprungs disease (HD), deafness, and ... Shah-Waardenburg syndrome Pan Afr Med J. 2013:14:60. doi: 10.11604/pamj.2013.14.60.1543. Epub 2013 Feb 12. ... Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprungs disease (HD), deafness, and ...
The syndrome involves deafness and pale skin, hair, and eye color. ... The syndrome involves deafness and pale skin, hair, and eye color. ... Waardenburg syndrome is a group of conditions passed down through families. ... Waardenburg syndrome is a group of conditions passed down through families. ...
... is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who, in 1947, first described a patient with hearing loss ... encoded search term (Genetics of Waardenburg Syndrome) and Genetics of Waardenburg Syndrome What to Read Next on Medscape ... Waardenburg syndrome (WS) is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who, in 1947, first described a ... or Klein-Waardenburg syndrome, includes features of WS in association with severe contractures. WS type 4 (WS4), or Waardenburg ...
Waardenburg-Shah syndrome. Disease definition Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) ... The differential diagnosis includes other forms of Waardenburg syndrome, piebaldism and ermine phenotype, as well as other ... neurologic Waardenburg-Shah syndrome, also called PCWH).. Diagnostic methods Diagnosis is determined by the presence of major ... or Waardenburg syndrome type 2). Specific mutations in SOX10 (particularly those predicted to truncate the protein at the level ...
... which is not seen in Waardenburg syndrome type 2. Sensorineural hearing loss is more severe in WS type 2. Waardenburg syndrome ... Waardenburg syndrome type 4 also known as Waardenburg -Hirschsprung disease as it is associated with aganglionic megacolon. ... Waardenburg syndrome type 1 is associated with dystopia canthorum (wide nasal bridge with an increase in intercanthal distance ... Waardenburg syndrome (WS), characterised by deafness and pigmentation abnormalities, is a heterogeneous genetic disorder that ...
... is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who, in 1947, first described a patient with hearing loss ... encoded search term (Genetics of Waardenburg Syndrome) and Genetics of Waardenburg Syndrome What to Read Next on Medscape ... Waardenburg syndrome (WS) is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who, in 1947, first described a ... or Klein-Waardenburg syndrome, includes features of WS in association with severe contractures. WS type 4 (WS4), or Waardenburg ...
Woxikon / English dictionary / K / Klein-Waardenburg syndrome EN English dictionary: Klein-Waardenburg syndrome ...
Waardenburg syndrome. Waardenburg syndrome (WS) is the most common type of autosomal dominant syndromic hearing loss. It ... Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome ... Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 1996; 12: ... Mohr-Tranebjaerg syndrome (deafness-dystonia-optic atrophy syndrome). Mohr-Tranebjaerg syndrome was first described in a large ...
WAARDENBURG SYNDROME TYPE 3 description, symptoms and related genes. Get the complete information in our medical search engine ... Waardenburg Syndrome Type 3 Is also known as klein-waardenburg syndrome, waardenburg syndrome with limb anomalies, waardenburg ... Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by ... Waardenburg Syndrome, Type 1 and 3 - PAX 3 Gene. By Center for Genetics at Saint Francis Saint Francis Hospital (United States ...
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... is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who, in 1947, first described a patient with hearing loss ... encoded search term (Genetics of Waardenburg Syndrome) and Genetics of Waardenburg Syndrome What to Read Next on Medscape ... Waardenburg syndrome (WS) is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who, in 1947, first described a ... or Klein-Waardenburg syndrome, includes features of WS in association with severe contractures. WS type 4 (WS4), or Waardenburg ...
Waardenburg syndrome. Read AP, Newton VE. Waardenburg syndrome. J Med Genet. 1997 Aug;34(8):656-65. Review. ... Waardenburg Syndrome, Type 4. Clinical Characteristics. Ocular Features: The skin and ocular pigmentary changes and the ... Waardenburg syndrome WS2E is allelic to type 4C. This is an example of genetic heterogeneity both within the main types and ... Review and update of mutations causing Waardenburg syndrome. Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, ...
Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of ... is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital ... CROGVWaardenburg syndrome type 2D. *CROGVWaardenburg syndrome type 2E*Waardenburg syndrome type 2E, with neurologic involvement ... CROGVWaardenburg syndrome type 2*CROGVWaardenburg syndrome type 2A ...
Cooper was born with Waardenburg syndrome and hearing loss. Now, Coopers cochlear implants are helping him to thrive. ... Waardenburg syndrome diagnosis. When Cooper was born, he had a huge patch of white hair mixed in with his otherwise dark hair. ... Hearing loss from Waardenburg syndrome led Britts family to cochlear implants, now he loves music and even helped spark a new ... Home » Hearing loss success stories » Hearing loss in children » Cooper was born with Waardenburg syndrome and now hears with ...
Waardenburg syndrome is a rare disease characterized by deafness in association with pigmentary anomalies and defects of neural ... Type IV Waardenburg syndrome (Shah-Waardenburg syndrome) is the association of Waardenburg syndrome with congenital aganglionic ... Type III Waardenburg syndrome (Klein-Waardenburg syndrome) is similar to type I but is also characterized by musculoskeletal ... Dermatologic Manifestations of Waardenburg Syndrome) and Dermatologic Manifestations of Waardenburg Syndrome What to Read Next ...
View Rat Genome Database annotations to Waardenburg Syndrome Type 4 ... An association has been curated linking Ednrb and Waardenburg Syndrome Type 4 in Rattus norvegicus. *The association was ... An association has been curated linking Ednrb and Waardenburg Syndrome Type 4 in Rattus norvegicus. *The association was ... 7 RGD objects have been annotated to Waardenburg Syndrome Type 4 (DOID:9005027). ...
Waardenburg Syndrome 2D): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. ... Waardenburgs syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes ... Waardenburgs syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes ... What is the treatment for Waardenburg syndrome? As Waardenburg syndrome is a genetic disease there is no curative treatment. ...
Balance problems are also associated with some types of Waardenburg syndrome.. References[edit]. ... Waardenburg syndrome. Hereditary disorder that is characterized by hearing impairment, a white shock of hair and/or distinctive ... Usher syndrome. Hereditary disease that affects hearing and vision and sometimes balance.. Ulna. Long bone in the arm on the ... Tourette syndrome. Neurological disorder characterized by recurring movements and sounds (called tics).. Tracheostomy. Surgical ...
Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprungs ... Shah-Waardenburg syndrome is a very rare syndrome but has a very high morbidity and mortality in the neonatal age group due to ... 2013). Waardenburg proposed the diagnostic criteria for Waardenburg syndrome types, later modified by Krishnakumar N. Shah (for ... Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan. *Taimoor Ashraf Khan. ORCID: orcid.org/0000-0001-9592-34541 ...
Kirsten Kerkhof: Waardenburg Syndrome. #17 Humans Have Relics Of Growth As A Fetus, Representing Cell Division And Trails. They ... 5 "Uncombable Hair Syndrome" Is A Rare And Harmless Condition That Disappears Around Puberty. ... 18 A Teenager From India Has A Rare Condition Called "Werewolf Syndrome", Or Also Known As Hypertrichosis. ...
A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. ... A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. ... DNA Mutational Analysis, Down Syndrome, Exons, Female, Hirschsprung Disease, Homozygote, Humans, Hypopigmentation, Infant, ... Newborn, Intestinal Obstruction, Mutation, Receptor, Endothelin B, Receptors, Endothelin, Syndrome, Waardenburg Syndrome ...
Genetics and Syndromes (7) *Language Development / Acquisition (7) *Language Disorders - Adult (15) *Language Disorders - Child ... Autism Spectrum and Asperger Syndrome (93) *Assistive Resources (18) *Assessment (8) *Social Skills (25) *Texts and Associated ... Genetics and Syndromes (1) *Dysphagia / Swallowing Disorders (4) *Language Deveopment / Acquisition (6) *Language Disorders - ... Genetics and Syndromes (1) *Dysphagia / Swallowing Disorders (4) *Language Deveopment / Acquisition (6) *Language Disorders - ...
Hearing loss in Waardenburg syndrome: a systematic review. Clin Genet. 2015 Jun 22. [QxMD MEDLINE Link]. ... Bayrak F, Catli T, Atsal G, Tokat T, Olgun L. Waardenburg Syndrome: An Unusual Indication of Cochlear Implantation Experienced ... The Hearing Outcomes of Cochlear Implantation in Waardenburg Syndrome. Biomed Res Int. 2016. 2016:2854736. [QxMD MEDLINE Link] ... The Outcomes of Cochlear Implantation in Usher Syndrome: A Systematic Review. J Clin Med. 2021 Jun 29. 10 (13):[QxMD MEDLINE ...
Tekin M, Bodurtha JN, Nance WE, Pandya A. Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a ... Waardenburg syndrome: A report of three cases. Sudip Kumar Ghosh, Debabrata Bandyopadhyay, Arghyaprasun Ghosh, Surajit Kumar ... Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report ... Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects ...
2010) Review and update of mutations causing Waardenburg syndrome. Hum Mutat 31:391-406, doi:10.1002/humu.21211, pmid:20127975. ... A number of genes identified in Waardenburg syndrome indicate deficiencies in NC specification, such as PAX3 and SNAI2, and ... possible variant of Waardenburg syndrome. J Pediatr 99:432-435, doi:10.1016/S0022-3476(81)80339-3, pmid:7264803. ... such as Waardenburg syndrome (Pingault et al., 2010). Melanocytes derived from NC cells form the intermediate cell layer of the ...
Auditory neuropathy in siblings with Waardenburgs syndrome. Jutras B, Russell LJ, Hurteau AM, Chapdelaine M. Jutras B, et al. ...
Waardenburgs syndrome 589 01:01 64. Complexity and language 469 02:23 ...
Congenitally deaf due to Waardenburg syndrome. ... Congenitally deaf due to Waardenburg syndrome.. Format:. video/ ...
  • Descriptions of the syndrome date back to at least the first half of the 20th century, however it is named after Dutch ophthalmologist and geneticist Petrus Johannes Waardenburg, who described it in 1951. (wikipedia.org)
  • Waardenburg syndrome (WS) is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who, in 1947, first described a patient with hearing loss, dystopia canthorum (ie, lateral displacement of the inner canthi of the eyes), and retinal pigmentary differences. (medscape.com)
  • var′dĕn-bŭrg″) [Petrus Johannes Waardenburg, Dutch ophthalmologist, 1886-1979] ABBR: WS. (mhmedical.com)
  • The syndrome is caused by mutations in any of several genes that affect the division and migration of neural crest cells during embryonic development (though some of the genes involved also affect the neural tube). (wikipedia.org)
  • Also known as Klein-Waardenburg syndrome, or Waardenburg-Klein syndrome, type 3 has the same symptoms as type 1 (and is caused by mutations in the same gene) but has additional symptoms that affect the arms and hands. (wikipedia.org)
  • The various forms of Waardenburg syndrome (WS), a neurocristopathy, arise from mutations in multiple genes. (medscape.com)
  • This syndrome is genetically heterogeneous, composed of three etiological subtypes: WS4-A, WS4-B and WS4-C, caused by mutations in the EDNRB (13q22.3, coding for the endothelin-B receptor), EDN3 (20q13.32, coding for an endothelin receptor ligand) and SOX10 (22q13.1, coding for the SOX10 transcription factor) genes, respectively. (orpha.net)
  • Heterozygous mutations in EDNRB and EDN3 are often asymptomatic although patients may also present with less severe phenotypes (isolated Hirschsprung disease, isolated deafness, less extended hypopigmentation, or Waardenburg syndrome type 2). (orpha.net)
  • Specific mutations in SOX10 (particularly those predicted to truncate the protein at the level of the terminal coding exons) result in a more severe WSS variant with neurologic findings (neurologic Waardenburg-Shah syndrome, also called PCWH). (orpha.net)
  • Mutations in multiple genes cause the various forms of Waardenburg syndrome (WS). (medscape.com)
  • Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome . (arizona.edu)
  • Mutations in this gene are associated with Waardenburg-Shah syndrome and uveal melanoma. (standardofcare.com)
  • Most cases of Waardenburg syndrome are caused by mutations in a few genes. (wewantscience.com)
  • Objective To determine PAX3 mutations associated with type I Waardenburg syndrome. (sdu.edu.cn)
  • Review and update of mutations causing Waardenburg syndrome[J]. Hum Mutat, 2010, 31(4):391-406. (sdu.edu.cn)
  • Waardenburgs syndrome patients have mutations in the human homologue of the Pax-3 paired box gene[J]. Nature, 1992, 355(6361):635-636. (sdu.edu.cn)
  • Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2[J]. Nat Genet, 1993, 3(1):26-30. (sdu.edu.cn)
  • WS type 4 (WS4), or Waardenburg-Shah syndrome, has features of WS in association with Hirschsprung disease . (medscape.com)
  • Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). (orpha.net)
  • Diagnosis is determined by the presence of major and minor characteristic clinical features according to the Waardenburg Consortium criteria, as well as history and physical examination for Hirschsprung disease utilizing plain abdominal X-ray, barium enema, anorectal manometry and rectal biopsy. (orpha.net)
  • The differential diagnosis includes other forms of Waardenburg syndrome, piebaldism and ermine phenotype, as well as other causes of hearing loss or Hirschsprung disease. (orpha.net)
  • Waardenburg syndrome type 4 also known as Waardenburg -Hirschsprung disease as it is associated with aganglionic megacolon. (eurorad.org)
  • Type 4 Waardenburg syndrome is largely similar to other types except that many patients also have Hirschsprung disease. (arizona.edu)
  • Type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. (beds.ac.uk)
  • Type IV Waardenburg syndrome (Shah-Waardenburg syndrome) is the association of Waardenburg syndrome with congenital aganglionic megacolon (Hirschsprung disease). (medscape.com)
  • Shah- Waardenburg syndrome, MIM 277580) is associated with features of Hirschsprung disease. (bioline.org.br)
  • Other disorders associated with Hirschsprung disease include Waardenburg syndrome, Bardet-Biedl syndrome, Goldberg-Shprintzen syndrome, and cartilage-hair hypoplasia. (msdmanuals.com)
  • The two features consistent across all types of Waardenburg syndrome are some degree of congenital sensorineural hearing loss and some degree of pigmentation deficiencies, most consistently in the eyes. (wikipedia.org)
  • The skin and ocular pigmentary changes and the sensorineural hearing loss in type 4 Waardenburg syndrome resembles that of other types. (arizona.edu)
  • Some Waardenburg syndrome types are associated with a disorder that causes deafness in children, called sensorineural hearing loss (SNHL). (wewantscience.com)
  • Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin. (wikipedia.org)
  • Genetic counseling may be helpful if you have a family history of Waardenburg syndrome and plan to have children. (medlineplus.gov)
  • Waardenburg syndrome (WS), characterised by deafness and pigmentation abnormalities, is a heterogeneous genetic disorder that may be detected at birth or later in early childhood. (eurorad.org)
  • Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. (beds.ac.uk)
  • There are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause. (beds.ac.uk)
  • Based on clinical and genetic criteria, 4 types of Waardenburg syndrome are recognized. (medscape.com)
  • Some dogs have blue eyes, and some dogs even have two different-colored … Just like humans, animals can suffer from a rare genetic disorder, known as Waardenburg syndrome. (newideas.net)
  • Waardenburg syndrome is a rare genetic condition that can affect people of all ages. (wewantscience.com)
  • 4] Arias S. Genetic heterogeneity in the Waardenburg syndrome[J]. Birth Defects Orig Artic Ser, 1971, 7(4):87-101. (sdu.edu.cn)
  • Waardenburg syndrome has multiple different types with some variations in symptoms, and symptoms can vary among those with the same type. (wikipedia.org)
  • When Waardenburg syndrome type 2 is caused by a mutation in SOX10 (classified as type 2E), it can on some occasions present with multiple neurological symptoms. (wikipedia.org)
  • In 1951, after identifying other patients with similar symptoms, Waardenburg defined the syndrome now classified as WS type 1 (WS1). (medscape.com)
  • Carpal tunnel syndrome : Symptoms & Signs, Diagnosis. (health32.com)
  • SOX10 and PAX3 interactions are thought to be regulators of other genes involved in the symptoms of Waardenburg syndrome, particularly MITF gene, which influences the development of melanocytes as well as neural crest formation. (standardofcare.com)
  • WS is named after a Dutch ophthalmologist, P. J. Waardenburg, who described a syndrome comprising of six distinctive features: lateral displacement of the medial canthi and lacrimal punctae, broad and high nasal root, hypertrichosis of medial part of the eyebrows, partial or total heterochromia iridis, white forelock, and congenital deaf mutism. (bioline.org.br)
  • The multiple types of this syndrome result from defects in different genes. (medlineplus.gov)
  • Several genes are known to cause this syndrome ( PAX3 , MITF , EDN3 , EDNRB, SOX10 ), with PAX3 mutation causing type 1 and 3 WS, MITF mutation causing most of type 2 WS. (eurorad.org)
  • The syndrome involves deafness and pale skin, hair, and eye color. (medlineplus.gov)
  • Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. (nih.gov)
  • ABCD syndrome is a rare variant expression of WSS, characterized by albinism, black lock, cell migration disorder of the gut neurocytes and deafness. (orpha.net)
  • Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. (symptoma.com)
  • or the group of syndromes to which autistic disorder belongs - the autism spectrum disorders . (wikipedia.org)
  • Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung's disease with a high likelihood of aganglionic megacolon, due to which the mortality is high. (biomedcentral.com)
  • Waardenburg syndrome (WS) is a rare inherited disorder of autosomal recessive type with variable clinical presentation. (biomedcentral.com)
  • Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. (bioline.org.br)
  • Waardenburg syndrome (WS) is an uncommon autosomally inherited and genetically heterogeneous disorder of neural crest cell development. (bioline.org.br)
  • Waardenburg Syndrome Type I, 3 - PAX3 Sequencing. (mendelian.co)
  • A novel PAX3 mutation causing type I Waardenburg syndrome. (sdu.edu.cn)
  • PAX3 gene mutation analysis for two Waardenburg syndrome type Ⅰ families and their prenatal diagnosis[J]. Chin J Otorhinolaryngol Head Neck Surg, 2016, 51(12):896-901. (sdu.edu.cn)
  • An association has been curated linking Ednrb and Waardenburg Syndrome Type 4 in Rattus norvegicus. (mcw.edu)
  • Not only does this feature present , but also there is evidence to interact with the MITF gene, which is responsible for different types of syndrome Waardenburg. (symptoma.com)
  • Waardenburg Syndrome Type 3 Is also known as klein-waardenburg syndrome, waardenburg syndrome with limb anomalies, waardenburg syndrome type iii, ws3. (mendelian.co)
  • Other clinical manifestations of type III syndrome comprise the full symptomatology of the disease plus mental retardation, microcephaly, and severe skeletal anomalies. (medscape.com)
  • Overall, 100% of patients with hearing loss and Waardenburg syndrome have temporal bone anomalies on at least one measurement of their inner ear and 50% have an enlargement of the vestibular aqueduct at the mid point. (medscape.com)
  • An estimated 2-5% of congenitally deaf people have Waardenburg syndrome. (wikipedia.org)
  • Congenitally deaf due to Waardenburg syndrome. (language-archives.org)
  • James has Waardenburg's syndrome and both his parents are deaf. (nuh.nhs.uk)
  • About 1 in 30 students in schools for the deaf have the syndrome. (mhmedical.com)
  • Waardenburg syndrome type 3 is associated with facial, ocular abnormalities and is a more severe form of type 1. (eurorad.org)
  • In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. (beds.ac.uk)
  • Abnormalities in NC cells involved in numerous human pathologies including various skeletal syndromes (e.g. (ca.gov)
  • 1] Presentation [edit] A patient displaying heterochromia as a symptom of type 2D Waardenburg syndrome. (symptoma.com)
  • A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. (bioline.org.br)
  • This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities. (nih.gov)
  • Waardenburg's syndrome in an African child. (ac.ke)
  • Waardenburg's syndrome may be closely related to piebaldism . (symptoma.com)
  • Individuals with type I Waardenburg syndrome also have a narrow nose, marked hypoplasia of the nasal bone, short philtrum, and short and retropositioned maxilla. (medscape.com)
  • [ 19 ] As shown by computed tomography, enlargement of the vestibular aqueduct and the upper vestibule, narrowing of the internal auditory canal porus, and hypoplasia of the modiolus are features of Waardenburg syndrome. (medscape.com)
  • these individuals presented with Waardenburg syndrome type 2 but did not have hair pigmentation deficiencies. (wikipedia.org)
  • Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are less common. (medlineplus.gov)
  • On the basis of cluster of genotypic and phenotypic presentations, there are four different types of this syndrome ranging from type I to type IV (or Waardenburg-Shah syndrome). (biomedcentral.com)
  • A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. (ox.ac.uk)
  • Individuals with type II Waardenburg syndrome are a heterogeneous group with normally located canthi (without dystopia canthorum). (medscape.com)
  • This is the first case of Waardenburg syndrome type IV with total intestinal aganglionosis from Pakistan. (biomedcentral.com)
  • Waardenburg syndrome is most often inherited as an autosomal dominant trait. (medlineplus.gov)
  • Both autosomal dominant and recessive inheritance have been reported for type 4 Waardenburg syndrome. (arizona.edu)
  • The clinical features of Waardenburg syndrome are stable and the features will remain throughout life. (symptoma.com)
  • this mutation was unique to the calf but identical to the delR217 variant reported in both humans and murine models of Waardenburg syndrome type 2A and Tietz syndrome. (unl.edu)
  • The estimated prevalence of Waardenburg syndrome is 1 in 42,000. (wikipedia.org)
  • Waardenburg syndrome[J]. J Med Genet, 1997, 34(8):656-665. (sdu.edu.cn)
  • The mutational spectrum in Waardenburg syndrome[J]. Hum Mol Genet, 1995, 4(11):2131-2137. (sdu.edu.cn)
  • Waardenburg syndrome(WS)type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium[J]. Am J Hum Genet, 1992(50):902-913. (sdu.edu.cn)
  • 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580). (beds.ac.uk)
  • Klein- Waardenburg syndrome, MIM 148820) is similar to WS1. (bioline.org.br)
  • Breeds which have white and brown coats are more likely to have conditions such as heterochromia and Waardenburg syndrome. (newideas.net)
  • Waardenburg syndrome type 1 is associated with dystopia canthorum (wide nasal bridge with an increase in intercanthal distance) which is not seen in Waardenburg syndrome type 2. (eurorad.org)
  • Type I Waardenburg syndrome is characterized by evidence of dystopia canthorum and the full symptomatology of the disease. (medscape.com)
  • Dystopia canthorum is found in 41.2-99% of persons with Waardenburg syndrome. (medscape.com)
  • Hageman and Delleman divided Waardenburg syndrome into 2 variants: with dystopia canthorum and without. (medscape.com)
  • According to the diagnostic criteria proposed by the Waardenburg consortium, [3] a person must have two major or one major plus two minor criteria to be diagnosed as WS type1 (WS1, MIM193500). (bioline.org.br)
  • Apert syndrome), diseases of nervous system (e.g. (ca.gov)
  • Congenital deafmutism occurs in 9-62.5% of persons with Waardenburg syndrome. (medscape.com)
  • WS type 3 (WS3), or Klein-Waardenburg syndrome, includes features of WS in association with severe contractures. (medscape.com)
  • Синдром Дауна (трисомія 21) Down syndrome is an anomaly of chromosome 21 that can cause intellectual disability, microcephaly, short stature, and characteristic facies. (msdmanuals.com)
  • A person with Waardenburg syndrome may also have an unusually small head, called microcephaly. (wewantscience.com)
  • The features of Waardenburg syndrome vary among affected individuals, even among people in the same family. (beds.ac.uk)
  • Characteristic morphologic features of Waardenburg syndrome can be recognized immediately or soon after birth. (medscape.com)