Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Inherited conditions characterized by a loss of MYELIN in the central nervous system.
'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.
A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).
The upper part of the human body, or the front or upper part of the body of an animal, typically separated from the rest of the body by a neck, and containing the brain, mouth, and sense organs.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
A characteristic symptom complex.
A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)
A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).
A flavoprotein enzyme that is responsible for the catabolism of LYSINE; HYDROXYLYSINE; and TRYPTOPHAN. It catalyzes the oxidation of GLUTARYL-CoA to crotonoyl-CoA using FAD as a cofactor. Glutaric aciduria type I is an inborn error of metabolism due to the deficiency of glutaryl-CoA dehydrogenase.
A lipid phosphatase that acts on phosphatidylinositol-3,4,5-trisphosphate to regulate various SIGNAL TRANSDUCTION PATHWAYS. It modulates CELL GROWTH PROCESSES; CELL MIGRATION; and APOPTOSIS. Mutations in PTEN are associated with COWDEN DISEASE and PROTEUS SYNDROME as well as NEOPLASTIC CELL TRANSFORMATION.
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement.
The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.
The measurement of the dimensions of the HEAD.
The magnitude of INBREEDING in humans.
Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
Biochemical identification of mutational changes in a nucleotide sequence.
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Malformations of organs or body parts during development in utero.
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.
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.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
An infant during the first month after birth.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.

Can syndromic macrocephaly be diagnosed in utero? (1/25)

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The phenotype of recurrent 10q22q23 deletions and duplications. (2/25)

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Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model. (3/25)

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Frequency of germline PTEN mutations in differentiated thyroid cancer. (4/25)

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Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. (5/25)

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Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions. (6/25)

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The test characteristics of head circumference measurements for pathology associated with head enlargement: a retrospective cohort study. (7/25)

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X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. (8/25)

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Craniofacial abnormalities refer to a group of birth defects that affect the development of the skull and face. These abnormalities can range from mild to severe and may involve differences in the shape and structure of the head, face, and jaws, as well as issues with the formation of facial features such as the eyes, nose, and mouth.

Craniofacial abnormalities can be caused by genetic factors, environmental influences, or a combination of both. Some common examples of craniofacial abnormalities include cleft lip and palate, craniosynostosis (premature fusion of the skull bones), and hemifacial microsomia (underdevelopment of one side of the face).

Treatment for craniofacial abnormalities may involve a team of healthcare professionals, including plastic surgeons, neurosurgeons, orthodontists, speech therapists, and other specialists. Treatment options may include surgery, bracing, therapy, and other interventions to help improve function and appearance.

Hereditary Central Nervous System (CNS) Demyelinating Diseases are a group of rare, inherited genetic disorders that affect the nervous system. These diseases are characterized by damage to the myelin sheath, which is the protective covering surrounding nerve fibers in the CNS (brain and spinal cord). The damage to the myelin sheath results in disrupted communication between the brain and other parts of the body, leading to various neurological symptoms.

Examples of Hereditary CNS Demyelinating Diseases include:

1. Leukodystrophies - A group of genetic disorders that affect the white matter (myelin) in the brain. Examples include Pelizaeus-Merzbacher disease, Krabbe disease, and Metachromatic leukodystrophy.
2. Hereditary Spastic Paraplegias (HSPs) - A group of inherited disorders that cause progressive stiffness and weakness in the legs due to damage to the nerve fibers in the spinal cord. Some forms of HSP can also involve CNS demyelination.
3. Neurodegenerative disorders with brain iron accumulation (NBIA) - A group of rare genetic disorders characterized by abnormal accumulation of iron in the brain, which can lead to damage to the myelin sheath and other structures in the brain. Examples include Pantothenate kinase-associated neurodegeneration (PKAN) and Neuroferritinopathy.
4. Cerebrotendinous xanthomatosis - A rare inherited disorder of bile acid metabolism that can lead to progressive neurological symptoms, including demyelination in the brain and spinal cord.

These disorders are typically diagnosed through genetic testing, medical history, physical examination, and imaging studies such as MRI. Treatment is focused on managing symptoms and slowing disease progression, and may include medications, physical therapy, and other supportive care measures.

'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.

Macrocephaly is a medical term that refers to a condition where an individual has an abnormally large head size. It is typically defined as a head circumference (the measurement of the head's perimeter) that is more than two standard deviations above the average for age, gender, and height.

Macrocephaly can be caused by various factors, including genetic disorders, brain abnormalities, developmental delays, and hydrocephalus (the accumulation of cerebrospinal fluid in the brain). In some cases, macrocephaly may not indicate any underlying medical condition, and the person's head size may remain proportionate to their body as they grow.

It is essential to monitor individuals with macrocephaly for any associated neurological or developmental issues and provide appropriate medical interventions if necessary.

In medical terms, the "head" is the uppermost part of the human body that contains the brain, skull, face, eyes, nose, mouth, and ears. It is connected to the rest of the body by the neck and is responsible for many vital functions such as sight, hearing, smell, taste, touch, and thought processing. The head also plays a crucial role in maintaining balance, speech, and eating.

"Facies" is a medical term that refers to the typical appearance of a person or part of the body, particularly the face, which may provide clues about their underlying medical condition or genetic background. A specific facies is often associated with certain syndromes or disorders. For example, a "downsyndrome facies" refers to the distinctive facial features commonly found in individuals with Down syndrome, such as a flattened nasal bridge, almond-shaped eyes, and an upward slant to the eyelids.

It's important to note that while facies can provide valuable diagnostic information, it should be used in conjunction with other clinical findings and genetic testing to make a definitive diagnosis. Additionally, facies should be described objectively and without judgment, as they are simply physical characteristics associated with certain medical conditions.

Hamartoma syndrome, multiple is a genetic disorder also known as Cowden syndrome. It is characterized by the growth of hamartomas, which are benign tumors made up of an overgrowth of normal cells and tissues. These hamartomas can develop in various parts of the body, including the skin, mucous membranes, gastrointestinal tract, breasts, thyroid gland, and other organs.

People with multiple hamartoma syndrome are at an increased risk of developing certain types of cancer, particularly breast, thyroid, endometrial, and colon cancers. They may also have benign growths in the skin and mucous membranes, such as trichilemmomas (benign tumors of the hair follicle) and papillomatous papules (benign growths with a wart-like appearance).

Multiple hamartoma syndrome is caused by mutations in the PTEN gene, which is a tumor suppressor gene. This means that the gene normally helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. When the PTEN gene is mutated, it can lead to the development of hamartomas and increase the risk of cancer.

The diagnosis of multiple hamartoma syndrome is typically based on a combination of clinical features, family history, and genetic testing. Treatment may involve regular cancer screening and surveillance, as well as surgical removal of benign or malignant growths as needed.

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.

Autistic Disorder, also known as Autism or Classic Autism, is a neurodevelopmental disorder that affects communication and behavior. It is characterized by:

1. Persistent deficits in social communication and social interaction across multiple contexts, including:
* Deficits in social-emotional reciprocity;
* Deficits in nonverbal communicative behaviors used for social interaction;
* Deficits in developing, maintaining, and understanding relationships.
2. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following:
* Stereotyped or repetitive motor movements, use of objects, or speech;
* Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior;
* Highly restricted, fixated interests that are abnormal in intensity or focus;
* Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment.
3. Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities) and limit or impair everyday functioning.
4. Symptoms do not occur exclusively during the course of a schizophrenia spectrum disorder or other psychotic disorders.

Autistic Disorder is part of the autism spectrum disorders (ASDs), which also include Asperger's Syndrome and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). The current diagnostic term for this category of conditions, according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), is Autism Spectrum Disorder.

'Mental retardation, X-linked' is not a term that is used in modern medicine. The term "mental retardation" has been replaced by the term "intellectual disability" to avoid stigmatization and to more accurately describe the condition. Furthermore, the use of terms like "X-linked" to describe a genetic disorder has been replaced by more precise genetic terminology.

The specific condition that you may be referring to is known as "Fragile X syndrome," which is a genetic disorder caused by mutations in the FMR1 gene on the X chromosome. Fragile X syndrome is the most common inherited cause of intellectual disability, affecting about 1 in 4,000 boys and 1 in 8,000 girls.

Individuals with Fragile X syndrome may have a range of symptoms, including intellectual disability that can vary from mild to severe, developmental delays, behavioral and learning challenges, physical features such as a long face, large ears, and flexible joints, and speech and language difficulties. They may also be at increased risk for certain medical conditions, such as seizures and autism spectrum disorder.

It's important to note that the use of outdated terminology can contribute to stigma and discrimination against individuals with intellectual disabilities. It is always best to use person-first language, such as "a person with Fragile X syndrome," to emphasize the individuality and dignity of people with intellectual disabilities.

Glutaryl-CoA Dehydrogenase (GCDH) is an enzyme that plays a crucial role in the catabolism of the amino acids lysine and hydroxylysine. It is located in the inner mitochondrial membrane and functions as a homotetramer, with each subunit containing one molecule of FAD as a cofactor.

GCDH catalyzes the oxidative decarboxylation of glutaryl-CoA to form succinyl-CoA, which is then further metabolized in the citric acid cycle. This reaction also involves the reduction of FAD to FADH2, which can subsequently be used in the electron transport chain to generate ATP.

Deficiency in GCDH function can lead to a rare inherited disorder called glutaric acidemia type I (GA-I), which is characterized by an accumulation of glutaryl-CoA and its metabolites, including glutaric acid and 3-hydroxyglutaric acid. These metabolites can cause neurological damage and intellectual disability if left untreated.

PTEN phosphohydrolase, also known as PTEN protein or phosphatase and tensin homolog deleted on chromosome ten, is a tumor suppressor protein that plays a crucial role in regulating cell growth and division. It works by dephosphorylating (removing a phosphate group from) the lipid second messenger PIP3, which is involved in signaling pathways that promote cell proliferation and survival. By negatively regulating these pathways, PTEN helps to prevent uncontrolled cell growth and tumor formation. Mutations in the PTEN gene can lead to a variety of cancer types, including breast, prostate, and endometrial cancer.

Muscle hypotonia, also known as decreased muscle tone, refers to a condition where the muscles appear to be flaccid or lacking in tension and stiffness. This results in reduced resistance to passive movements, making the limbs feel "floppy" or "like a rag doll." It can affect any muscle group in the body and can be caused by various medical conditions, including neurological disorders, genetic diseases, and injuries to the nervous system. Hypotonia should not be confused with muscle weakness, which refers to the inability to generate normal muscle strength.

Microcephaly is a medical condition where an individual has a smaller than average head size. The circumference of the head is significantly below the normal range for age and sex. This condition is typically caused by abnormal brain development, which can be due to genetic factors or environmental influences such as infections or exposure to harmful substances during pregnancy.

Microcephaly can be present at birth (congenital) or develop in the first few years of life. People with microcephaly often have intellectual disabilities, delayed development, and other neurological problems. However, the severity of these issues can vary widely, ranging from mild to severe. It is important to note that not all individuals with microcephaly will experience significant impairments or challenges.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Agenesis of the corpus callosum is a birth defect in which the corpus callosum, the part of the brain that connects the two hemispheres and allows them to communicate, fails to develop normally during fetal development. In cases of agenesis of the corpus callosum, the corpus callosum is partially or completely absent.

This condition can vary in severity and may be associated with other brain abnormalities. Some individuals with agenesis of the corpus callosum may have normal intelligence and few symptoms, while others may have intellectual disability, developmental delays, seizures, vision problems, and difficulties with movement and coordination. The exact cause of agenesis of the corpus callosum is not always known, but it can be caused by genetic factors or exposure to certain medications or environmental toxins during pregnancy.

Central nervous system (CNS) cysts are abnormal fluid-filled sacs that develop in the brain or spinal cord. These cysts can be congenital, meaning they are present at birth and develop as a result of abnormal embryonic development, or they can be acquired later in life due to injury, infection, or disease.

CNS cysts can vary in size and may cause symptoms depending on their location and the amount of pressure they place on surrounding brain or spinal cord tissue. Symptoms may include headaches, seizures, weakness, numbness, or difficulty with coordination and balance. In some cases, CNS cysts may not cause any symptoms and may be discovered incidentally during imaging studies performed for other reasons.

There are several types of CNS cysts, including:

1. Arachnoid cysts: These are the most common type of CNS cyst and occur between the layers of the arachnoid membrane that covers the brain and spinal cord.
2. Colloid cysts: These cysts typically develop at the junction of the third and fourth ventricles in the brain and can obstruct the flow of cerebrospinal fluid (CSF), leading to increased intracranial pressure.
3. Ependymal cysts: These cysts arise from the ependymal cells that line the ventricular system of the brain and can cause symptoms by compressing surrounding brain tissue.
4. Neuroglial cysts: These cysts are composed of glial cells, which support and protect nerve cells in the CNS.
5. Pineal cysts: These cysts develop in the pineal gland, a small endocrine gland located near the center of the brain.

Treatment for CNS cysts depends on their size, location, and symptoms. In some cases, observation and monitoring may be all that is necessary. However, if the cyst is causing significant symptoms or is at risk of rupturing or obstructing CSF flow, surgical intervention may be required to remove or reduce the size of the cyst.

The skull is the bony structure that encloses and protects the brain, the eyes, and the ears. It is composed of two main parts: the cranium, which contains the brain, and the facial bones. The cranium is made up of several fused flat bones, while the facial bones include the upper jaw (maxilla), lower jaw (mandible), cheekbones, nose bones, and eye sockets (orbits).

The skull also provides attachment points for various muscles that control chewing, moving the head, and facial expressions. Additionally, it contains openings for blood vessels, nerves, and the spinal cord to pass through. The skull's primary function is to protect the delicate and vital structures within it from injury and trauma.

Neurofibromatosis 1 (NF1) is a genetic disorder that affects the development and growth of nerve tissue. It's also known as von Recklinghausen disease. NF1 is characterized by the growth of non-cancerous tumors on the nerves, as well as skin and bone abnormalities.

The symptoms of Neurofibromatosis 1 can vary widely, even among members of the same family. Some common features include:

* Multiple café au lait spots (flat, light brown patches on the skin)
* Freckles in the underarms and groin area
* Benign growths on or under the skin called neurofibromas
* Larger, more complex tumors called plexiform neurofibromas
* Optic gliomas (tumors that form on the optic nerve)
* Distinctive bone abnormalities, such as a curved spine (scoliosis) or an enlarged head (macrocephaly)
* Learning disabilities and behavioral problems

Neurofibromatosis 1 is caused by mutations in the NF1 gene, which provides instructions for making a protein called neurofibromin. This protein helps regulate cell growth and division. When the NF1 gene is mutated, the production of neurofibromin is reduced or absent, leading to uncontrolled cell growth and the development of tumors.

NF1 is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, about half of all cases are the result of new mutations in the NF1 gene, and occur in people with no family history of the disorder.

There is currently no cure for Neurofibromatosis 1, but treatments are available to manage the symptoms and complications of the disease. These may include medications to control pain or reduce the size of tumors, surgery to remove tumors or correct bone abnormalities, and physical therapy to improve mobility and strength. Regular monitoring by a healthcare team experienced in treating Neurofibromatosis 1 is also important to detect any changes in the condition and provide appropriate care.

Hydrocephalus is a medical condition characterized by an abnormal accumulation of cerebrospinal fluid (CSF) within the brain, leading to an increase in intracranial pressure and potentially causing damage to the brain tissues. This excessive buildup of CSF can result from either overproduction or impaired absorption of the fluid, which typically causes the ventricles (fluid-filled spaces) inside the brain to expand and put pressure on surrounding brain structures.

The condition can be congenital, present at birth due to genetic factors or abnormalities during fetal development, or acquired later in life as a result of injuries, infections, tumors, or other disorders affecting the brain's ability to regulate CSF flow and absorption. Symptoms may vary depending on age, severity, and duration but often include headaches, vomiting, balance problems, vision issues, cognitive impairment, and changes in behavior or personality.

Treatment for hydrocephalus typically involves surgically implanting a shunt system that diverts the excess CSF from the brain to another part of the body where it can be absorbed, such as the abdominal cavity. In some cases, endoscopic third ventriculostomy (ETV) might be an alternative treatment option, creating a new pathway for CSF flow within the brain. Regular follow-ups with neurosurgeons and other healthcare professionals are essential to monitor the condition and make any necessary adjustments to the treatment plan.

Cephalometry is a medical term that refers to the measurement and analysis of the skull, particularly the head face relations. It is commonly used in orthodontics and maxillofacial surgery to assess and plan treatment for abnormalities related to the teeth, jaws, and facial structures. The process typically involves taking X-ray images called cephalograms, which provide a lateral view of the head, and then using various landmarks and reference lines to make measurements and evaluate skeletal and dental relationships. This information can help clinicians diagnose problems, plan treatment, and assess treatment outcomes.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

A cyst is a closed sac, having a distinct membrane and division between the sac and its surrounding tissue, that contains fluid, air, or semisolid material. Cysts can occur in various parts of the body, including the skin, internal organs, and bones. They can be caused by various factors, such as infection, genetic predisposition, or blockage of a duct or gland. Some cysts may cause symptoms, such as pain or discomfort, while others may not cause any symptoms at all. Treatment for cysts depends on the type and location of the cyst, as well as whether it is causing any problems. Some cysts may go away on their own, while others may need to be drained or removed through a surgical procedure.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.

Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.

It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.

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.

A frameshift mutation is a type of genetic mutation that occurs when the addition or deletion of nucleotides in a DNA sequence is not divisible by three. Since DNA is read in groups of three nucleotides (codons), which each specify an amino acid, this can shift the "reading frame," leading to the insertion or deletion of one or more amino acids in the resulting protein. This can cause a protein to be significantly different from the normal protein, often resulting in a nonfunctional protein and potentially causing disease. Frameshift mutations are typically caused by insertions or deletions of nucleotides, but they can also result from more complex genetic rearrangements.

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.

Congenital abnormalities, also known as birth defects, are structural or functional anomalies that are present at birth. These abnormalities can develop at any point during fetal development, and they can affect any part of the body. They can be caused by genetic factors, environmental influences, or a combination of both.

Congenital abnormalities can range from mild to severe and may include structural defects such as heart defects, neural tube defects, and cleft lip and palate, as well as functional defects such as intellectual disabilities and sensory impairments. Some congenital abnormalities may be visible at birth, while others may not become apparent until later in life.

In some cases, congenital abnormalities may be detected through prenatal testing, such as ultrasound or amniocentesis. In other cases, they may not be diagnosed until after the baby is born. Treatment for congenital abnormalities varies depending on the type and severity of the defect, and may include surgery, therapy, medication, or a combination of these approaches.

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.

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.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

Epilepsy is a chronic neurological disorder characterized by recurrent, unprovoked seizures. These seizures are caused by abnormal electrical activity in the brain, which can result in a wide range of symptoms, including convulsions, loss of consciousness, and altered sensations or behaviors. Epilepsy can have many different causes, including genetic factors, brain injury, infection, or stroke. In some cases, the cause may be unknown.

There are many different types of seizures that can occur in people with epilepsy, and the specific type of seizure will depend on the location and extent of the abnormal electrical activity in the brain. Some people may experience only one type of seizure, while others may have several different types. Seizures can vary in frequency, from a few per year to dozens or even hundreds per day.

Epilepsy is typically diagnosed based on the patient's history of recurrent seizures and the results of an electroencephalogram (EEG), which measures the electrical activity in the brain. Imaging tests such as MRI or CT scans may also be used to help identify any structural abnormalities in the brain that may be contributing to the seizures.

While there is no cure for epilepsy, it can often be effectively managed with medication. In some cases, surgery may be recommended to remove the area of the brain responsible for the seizures. With proper treatment and management, many people with epilepsy are able to lead normal, productive lives.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

Retrospective studies, also known as retrospective research or looking back studies, are a type of observational study that examines data from the past to draw conclusions about possible causal relationships between risk factors and outcomes. In these studies, researchers analyze existing records, medical charts, or previously collected data to test a hypothesis or answer a specific research question.

Retrospective studies can be useful for generating hypotheses and identifying trends, but they have limitations compared to prospective studies, which follow participants forward in time from exposure to outcome. Retrospective studies are subject to biases such as recall bias, selection bias, and information bias, which can affect the validity of the results. Therefore, retrospective studies should be interpreted with caution and used primarily to generate hypotheses for further testing in prospective studies.

Benign and familial macrocephaly is not associated with neurological disorders. While benign and familial macrocephaly does not ... Many genetic conditions are associated with macrocephaly, including familial macrocephaly related to the holgate gene, autism, ... in which it is considered benign familial macrocephaly and is considered megalencephaly form of macrocephaly). Diagnoses for ... Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, ...
A new name, macrocephaly-capillary malformation, abbreviated M-CM, was recommended in 2007. This new name was chosen to more ... Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and ... It is not clear if there are some features which are mandatory to make the diagnosis, but macrocephaly appears essentially ... 1997). "Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome". Clin Dysmorphol. 6 ( ...
... macrocephaly; severe hypotonia; a characteristic facial appearance due to hypotonia, giving a droopy, "open-mouthed" expression ... and a characteristic facial appearance including macrocephaly (an abnormally large head). FG syndrome's major clinical features ... delays A family history consistent with X-linked inheritance Characteristic facial features Absolute or relative macrocephaly ...
ATXN3 Macrocephaly, alopecia, cutis laxa, and scoliosis; 613075; RIN2 Macrocephaly/autism syndrome; 605309; PTEN Macrocytic ... TREX1 VATER association with macrocephaly and ventriculomegaly; 276950; PTEN Velocardiofacial syndrome; 192430; TBX1 Venous ...
In the pre-historic area, there were various paintings or artifacts depicting children or adults with macrocephaly (large head ... "What You Should Know About Macrocephaly". WebMD. Retrieved 2022-05-17. "Spina Bifida". Spinabifidamoms.com. Archived from the ...
Expansion of the skull bone leads to macrocephaly. Additionally, linear growth retardation that is not apparent at birth, ...
... macrocephaly). Macrocephaly is amongst the earliest signs of GA1. It is thus important to investigate all cases of macrocephaly ... Macrocephaly remains the main sign of GA1 for those who have no relatives with GA1 and have not been included in a population ... Macrocephaly is a pivotal clinical sign of many neurological diseases. Physicians and parents should be aware of the benefits ... Screening of those known to be at high risk, neonatal population screening and a diagnosis of macrocephaly are the ways to ...
As a child, he was diagnosed with macrocephaly. Prior to becoming a filmmaker, Parker worked as a press officer and in the ...
Hypotonia and macrocephaly are also observed in the first few months. During the latter part of the first year, most children's ... Common symptoms in infants include lack of motor skills, weak muscle tone, and macrocephaly. It may also be accompanied by ... Unlike the infantile form, there is no macrocephaly exhibited. Although the pathophysiological causes of CD symptoms are still ... which similarly exhibit macrocephaly), as patients with CD uniquely display increased excretion of NAA. DNA analysis is ...
NFIB haploinsufficiency is also associated with intellectual disability and macrocephaly, as are NFIA and NFIX. The NFIB gene ... Absence of one copy is associated with macrocephaly and intellectual disability. This associated was confirmed in mouse ... 2018). "NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly". The American Journal of Human ... "NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly". Am J Hum Genet. 103 (5): 752-768. doi: ...
It is characterized by hypotonia, intellectual disability, and macrocephaly. Children with JS may also have epilepsy or meet ... Initial clinical findings may include macrocephaly, hypotonia, epilepsy, ophthalmologic abnormalities, and dysmorphic facial ... macrocephaly, hypotonia, and autism". Neurogenetics. 17 (1): 43-49. doi:10.1007/s10048-015-0466-9. ISSN 1364-6753. PMC 4765493 ...
Macrocephaly and brain white matter abnormalities have also been observed. Seizures often develop between the ages of 1 and 6 ...
Individuals that exhibited overgrowth sometimes had macrocephaly and tall stature; one such case also had concurrent ...
Macrocephaly as a clinical indicator of genetic subtypes in autism. Autism Res. Feb 2013;6(1):51-56. O'Roak BJ, Vives L, Fu W, ...
About 5 percent of affected individuals have an enlarged head (macrocephaly). There may also be associated hearing loss in 10- ...
Additional Case Series with Confirmation of a Macrocephaly Region". Case Reports in Genetics. 2015: 192071. doi:10.1155/2015/ ... encoding gene C12orf66 is linked to a number of developmental delays and neurodevelopment disorders such as macrocephaly. ...
Around one half typically have some form of macrocephaly, while around one third show signs of autism or similar conditions. ... It is characterized by impaired intellectual development, macrocephaly, dysarthria and apraxia of speech, and certain ... "Prenatal Diagnosis of Snijders Blok-Campeau Syndrome in a Fetus with Macrocephaly". Fetal Diagnosis and Therapy. 48 (5): 407- ... "CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language". Fan, Xi ...
In Secret Six #6 (December 2006), Tetch claims to suffer from macrocephaly. The character of the Mad Hatter has been analyzed ...
People with autism and PTEN mutations may have macrocephaly (unusually large heads). Patients with defective PTEN can develop ...
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M- ... Presence of neurological abnormality or macrocephaly can suggest macrocephaly-capillary malformation syndrome. Hemihypertrophy- ... The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising ... Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue ...
They include: Persistent or new onset headaches Macrocephaly or bulging fontanels in infants. Loss of appetite (refusal to take ...
Macrocephaly is a term used to refer to a person who has an abnormally large head. The circumference of the head must be above ... A person with macrocephaly does not necessarily indicate that megalencephaly is also present. Large skulls usually exhibit no ... Those individuals that are classified with macrocephaly, or general head overgrowth, are said to have megalencephaly at a rate ... Hemimegalencephaly is an extremely rare form of macrocephaly and is characterized by uneven development of brain hemispheres ( ...
Central Nervous System Macrocephaly is observed in 84% of patients with Cowden syndrome. It typically occurs due to an ... 3 major criteria are met or more that must include macrocephaly, Lhermitte-Duclos, or GI hamartomas 2) two major and three ... Cowden's syndrome is a multi-system disorder that also includes neurodevelopmental disorders such as macrocephaly. The ...
Cohen and Tibbles said Merrick showed the following signs of Proteus syndrome: "macrocephaly; hyperostosis of the large skull; ...
A capillary malformation is also a feature of the disorder macrocephaly-capillary malformation. A vascular anomaly can be ... Gonzalez, ME; Burk, CJ; Barbouth, DS; Connelly, EA (May-June 2009). "Macrocephaly-capillary malformation: a report of three ...
Most mutations cause microcephaly while some specific changes appear to result in macrocephaly. RAC1 has been shown to interact ...
Patnaik, A; Mishra SS; Mishra S; Das S. (2012). "A rare case of colpocephaly with macrocephaly successfully treated with ... A rare case of colpocephaly is described in literature which is associated with macrocephaly instead of microcephaly. Increased ...
Relationships have been found between autism, duplications of genes and macrocephaly on one side. On the other side, a ... Medicine portal Anencephaly (Usually rapidly fatal) Cerebral rubicon Hydrocephaly Macrocephaly Seckel syndrome Achalasia ...
These cerebral organoids were found to reflect characteristics typical of the ASD-related macrocephaly phenotype found in the ... By cultivating cerebral organoids from ASD patients with macrocephaly, connections could be made between certain gene mutations ... In one study, cerebral organoids were cultured from cells derived from macrocephaly ASD patients. ...
Increased brain size in early childhood causing macrocephaly in 15-20% of ASD individuals. The brain size however normalizes by ...
Benign and familial macrocephaly is not associated with neurological disorders. While benign and familial macrocephaly does not ... Many genetic conditions are associated with macrocephaly, including familial macrocephaly related to the holgate gene, autism, ... in which it is considered benign familial macrocephaly and is considered megalencephaly form of macrocephaly). Diagnoses for ... Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, ...
Macrocephaly can be the first manifestation of various congenital and acquired neurologic conditions or may be just a familial ... Macrocephaly is defined as head circumference more than two standard deviations (SDs) above the mean value for a given age and ... The etiology of macrocephaly is diverse. [4] The most common cause is benign familial macrocephaly characterized by enlargement ... encoded search term (Macrocephaly) and Macrocephaly What to Read Next on Medscape ...
What is macrocephaly?. The term macrocephaly means "large head." Macrocephaly is diagnosed when the head circumference is above ... How does macrocephaly happen?. Macrocephaly may be caused by the enlargement of any of the heads compartments. As obvious ... have been excluded, macrocephaly may be identified as megalencephaly. The most common form of macrocephaly is benign familial ... How is a macrocephaly diagnosed?. The diagnosis of enlarged head can be made by ultrasound during pregnancy. However, the ...
... Subscriber Sign In Feedback Select Language Share Search for a symptom, medication, or ... Macrocephaly-capillary malformation in Infant/Neonate. Print Images (11) Contributors: Caitlin M. Peterman MD, Maria Cordisco ... Macrocephaly-capillary malformation (M-CM) consists of an enlarged head circumference and reticular capillary malformation (CM ... M-CM was initially labeled as macrocephaly-cutis marmorata telangiectasia congenita (M-CMTC). The name was changed to M-CM when ...
CME Test for Emergency Department Management of Children With Macrocephaly. Includes 4 ,em,AMA PRA Category 1 Credits,/em,&# ... To take Emergency Department Management of Children With Macrocephaly CME test, please choose one of the options below:. ...
We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and ... 76.1, p = 0.021). Their dysmorphic features were non-specific, except for macrocephaly. Among the ten patients with identified ... We performed whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder. Sources ... Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly ...
... a genetic disease characterized by macrocephaly (enlarged head), multiple lipomas (benign fatty tumors) and hemangiomas (benign ... blood vessel tumors). The macrocephaly occurs without enlargement of the cerebral ventricles. There ... Macrocephaly, multiple lipomas, and hemangiomas. Bannayan syndrome, a genetic disease characterized by macrocephaly (enlarged ... Bannayan syndrome - A genetic disease characterized by macrocephaly (enlarged head), multiple lipomas (benign fatty tumors) and ...
Macrocephaly - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional ... In proportionate macrocephaly, the head appears appropriately sized for the body (ie, the large head is associated with a large ... Macrocephaly (megacephaly) is a head circumference > 2 standard deviations above the mean for age (1 General references ... In disproportionate macrocephaly, the head is larger than appropriate for the childs size; affected children are at risk of ...
See what is macrocephaly, symptoms, causes and how it is done ... ... Macrocephaly is a rare condition in which the childs head is ... Signs and symptoms of macrocephaly. The main sign of macrocephaly is the head larger than normal for the childs age and sex, ... Macrocephaly is a rare condition in which the childs head is larger than expected for age and sex, and it is important to ... Macrocephaly is a rare condition characterized by the childs head size larger than normal for sex and age and which can be ...
MACROCEPHALY and SMALL HAND related symptoms, diseases, and genetic alterations. Get the complete information with our medical ... Macrocephaly, and Small hand. .site-footer{margin-bottom:80px}. If you liked this article maybe you will also find interesting ...
Benign familial macrocephaly (family tendency toward large head size). *Canavan disease (condition that affects how the body ...
Macrocephaly. Brain MRI shows MTS. Reported in 1 family to date.. IFT57 IFT57-related OFD (OMIM 617927). AR. Short stature, ... An OFD1 pathogenic variant was reported in male family members with intellectual disability, macrocephaly, obesity, skeletal ... A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral- ...
Migraine is a common disorder in children. Estimates indicate that 3.
Macrocephaly. Jones SG, Samanta D. Jones SG, et al. 2023 Jul 24. In: StatPearls [Internet]. Treasure Island (FL): StatPearls ...
Enlarged head (macrocephaly). *Cherry-red spots in the eye. *Frequent respiratory infections ...
Overgrowth and Macrocephaly Syndromes Panel. PreventionGenetics. United States. 150. 88. *D Deletion/duplication analysis ...
... and macrocephaly. The exact prevalence of PTEN mutations in patients with ASD and macrocephaly is uncertain; with prevalence ... Keywords: autism spectrum disorder, macrocephaly, mutation, prevalence, PTEN, TUMOR-SUPPRESSOR, GERMLINE MUTATIONS, COWDEN ... and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly ...
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and ... Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and ...
Hydranencephaly (macrocephaly, thinned skull vault, primitive reflexes preserved). ✓. Intrauterine growth retardation (birth ... Kenny-Caffey syndrome (hypoparathyroidism, dwarfism, macrocephaly). ✓. ✓. Osteogenesis imperfecta (shortened limbs, wormian ...
Macrocephaly (enlarged head size) * Rib or vertebral abnormalities. * Increased risk of medulloblastoma (malignant brain tumor ...
ICD-10 code Q04.3 for Other reduction deformities of brain is a medical classification as listed by WHO under the range -Congenital malformations of t
macrocephaly, a head thats larger than normal. *microcephaly, a head thats smaller than normal ...
Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly ... Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/ ...
macrocephaly1357422374and appears on 6 listswas added by Arvesse and appears on 6 lists ...
They will manifest macrocephaly, hypotonia, and intellectual disability. Life expectancy is variable, but many individuals die ...
congenital anomalies and dysmorphic features including macrocephaly or microcephaly. [2011]. 1.5.7 Consider the following ...
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Macrocephaly, Dysmorphic Facies, and Psychomotor ...
S1). However, ten individuals displayed abnormalities in calvarial morphology, including macrocephaly, brachycephaly, ... and macrocephaly. He could speak in 2-3 word sentences at 42 months, with further speech improvements at 4.5 years of age. At 5 ...
Macrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndrome Retrieved from "https://www.SNPedia.com/index.php?title= ...
  • Those with benign or familial macrocephaly are considered to have megalencephaly. (wikipedia.org)
  • Pathologic macrocephaly may be due to megalencephaly (enlarged brain), hydrocephalus (abnormally increased cerebrospinal fluid), cranial hyperostosis (bone overgrowth), and other conditions. (wikipedia.org)
  • Benign macrocephaly can occur without reason or be inherited by one or both parents (in which it is considered benign familial macrocephaly and is considered megalencephaly form of macrocephaly). (wikipedia.org)
  • Macrocephaly can result from enlargement of the skull bones or an increase in the volume of the intracranial structures like cerebrospinal fluid, blood, or the brain parenchyma itself (megalencephaly). (medscape.com)
  • As obvious causes of head enlargement (such as fluid on the brain), cerebral tumors, abnormal brain development etc. have been excluded, macrocephaly may be identified as megalencephaly. (isuog.org)
  • On the other hand, megalencephaly is defined as hyperplasia of the brain parenchyma observed in a radiological examination together with clinical features of macrocephaly. (biomedcentral.com)
  • Diagnoses for familial macrocephaly is determined by measuring the head circumference of both parents and comparing it to the child's. (wikipedia.org)
  • Benign and familial macrocephaly is not associated with neurological disorders. (wikipedia.org)
  • While benign and familial macrocephaly does not result in neurological disorders, neurodevelopment will still be assessed. (wikipedia.org)
  • citation needed] Although neurological disorders do not occur, temporary symptoms of benign and familial macrocephaly include: developmental delay, epilepsy, and mild hypotonia. (wikipedia.org)
  • Macrocephaly can be the first manifestation of various congenital and acquired neurologic conditions or may be just a familial trait. (medscape.com)
  • The prognosis is quite favorable in children with benign familial macrocephaly. (medscape.com)
  • [ 4 ] The most common cause is benign familial macrocephaly characterized by enlargement of the subarachnoid spaces and accounts for almost 50% of cases. (medscape.com)
  • The most common form of macrocephaly is benign familial macrocephaly. (isuog.org)
  • Infants with familial benign macrocephaly usually require no treatment other than head size monitoring. (isuog.org)
  • Macrocephaly-capillary malformation (M-CM) consists of an enlarged head circumference and reticular capillary malformation (CM) of the face (usually central), trunk, and/or extremities. (logicalimages.com)
  • Dysregulation of these genes results in severe brain malformation such as macrocephaly and microcephaly. (frontiersin.org)
  • In this study, we investigate whether the counter-balance interaction between Gli3 and miR-7 is sufficient to correct macrocephaly-like malformation caused by Gli3 deficiency. (frontiersin.org)
  • We performed whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder. (biomedcentral.com)
  • We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and developmental delay/autism spectrum disorder. (biomedcentral.com)
  • Given the high diagnostic yield and the management implications, we suggest implementing comprehensive genetic testing in the PI3K-AKT-mTOR pathway in the clinical evaluation of patients with macrocephaly and developmental delay and/or autism spectrum disorder. (biomedcentral.com)
  • PTEN has been implicated in autism for a subset of patients with macrocephaly. (nih.gov)
  • Children with the PTEN mutation and autism often also have macrocephaly, or head enlargement. (additudemag.com)
  • The researchers contrasted data from 17 PTEN-ASD children who had the enlarged head trait with data from three other groups: 16 participants with autism and macrocephaly, 38 children with only ASD, and 14 people with no disorder. (additudemag.com)
  • People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. (wikipedia.org)
  • Neurodevelopment is assessed for all cases and suspected cases of macrocephaly to determine whether and what treatments may be needed, and whether any other syndrome/s may be present or likely to develop. (wikipedia.org)
  • Bannayan syndrome, a genetic disease characterized by macrocephaly (enlarged head), multiple lipomas (benign fatty tumors) and hemangiomas (benign blood vessel tumors). (en-academic.com)
  • Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. (ox.ac.uk)
  • This syndrome is characterized by pre- and post- macrosomia and distinctive craniofacial features such as macrocephaly, coarse facial features, and palatal abnormalities. (chromodisorder.org)
  • Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome. (umassmed.edu)
  • If immediate surgery is not needed then further testing will be done to determine whether the patient has either macrocephaly or benign macrocephaly. (wikipedia.org)
  • It can also be a feature of various congenital syndromes and is then referred to as syndromic macrocephaly. (medscape.com)
  • However, it could occur as part of a broad pattern of anomalies and dysmorphic features in many different syndromes, referred to as a syndromic macrocephaly. (isuog.org)
  • Pathologic macrocephaly may be caused by congenital anatomic abnormalities, genetic conditions, or by environmental events. (wikipedia.org)
  • Amniocentesis for more detailed genetic testing should be considered when macrocephaly due to genetic causes is suspected. (isuog.org)
  • Macrocephaly can have several causes, most of which are linked to genetic factors, resulting in metabolic diseases or malformations. (thelightlifeblog.com)
  • Symptoms vary on the cause of macrocephaly on the child and if the child has any other accompanying syndromes which will be determined through molecular testing. (wikipedia.org)
  • Macrocephaly syndromes. (medscape.com)
  • Comparative radiographic study of the hands and feet: The most characteristic non-cutaneous features are progressive asymmetric macrodactyly, hemihypertrophy of any part of the skeleton, scoliosis and spinal canal stenosis, macrocephaly, and exostoses, especially of the skull. (medscape.com)
  • Macrocephaly is a condition in which circumference of the human head is abnormally large. (wikipedia.org)
  • Diagnosis for macrocephaly involves the comparison of the infant's head circumference to that of other infants of the same age and ethnicity. (wikipedia.org)
  • Macrocephaly is defined as head circumference more than two standard deviations (SD) above the mean value for a given age and gender. (medscape.com)
  • Macrocephaly is diagnosed when the head circumference is above the 98th percentile, or greater than 2 standard deviations above the mean for gestational age. (isuog.org)
  • Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. (biomedcentral.com)
  • Macrocephaly is defined as a disproportionally enlarged head size with an occipitofrontal circumference greater than or equal to +2 standard deviations (SDs). (biomedcentral.com)
  • Macrocephaly is a rare condition characterized by the child's head size larger than normal for sex and age and which can be diagnosed by measuring the size of the head, also called head circumference or CP, and plotted on a graph and accompanied measurements during childcare consultations, from birth to 2 years of age. (thelightlifeblog.com)
  • The diagnosis of macrocephaly is made as the child develops, measuring the head circumference at each visit with the pediatrician. (thelightlifeblog.com)
  • Macrocephaly was noted at birth, and rocephaly, frontotemporal brain atrophy his head circumference continued to grow and acute encephalopathic episodes char- parallel to the 98th centile. (who.int)
  • If a patient is suspected of having macrocephaly molecular testing will be used to confirm diagnosis. (wikipedia.org)
  • Prenatally, the diagnosis of macrocephaly sometimes is made with routine ultrasonography done in the late second or early third trimester. (msdmanuals.com)
  • Methods A 6-year-old boy presented with prenatal growth restriction, macrocephaly at birth, forehead protrusion in infancy and clinodactyly of the fifth finger. (bmj.com)
  • In addition to measuring CP and relating to the child's development, sex and age, the pediatrician also evaluates the signs and symptoms, because some are related only to a certain type of macrocephaly, and can start treatment more quickly. (thelightlifeblog.com)
  • When macrocephaly is physiological, that is, when it does not represent a risk to the child's health, it is not necessary to initiate specific treatment, with the child's development only being monitored. (thelightlifeblog.com)
  • Whether miR-7, one of the microcephaly-pathogenic genes, could act as a potential modulator to remedy macrocephaly remains obscure. (frontiersin.org)
  • Macrocephaly may be caused by the enlargement of any of the head's compartments. (isuog.org)
  • The macrocephaly occurs without enlargement of the cerebral ventricles. (en-academic.com)
  • Il s'agit d'une étude rétrospective descriptive et analytique, multicentrique portant sur des patients de moins de 5ans pris en charge pour une affection neurochirurgicale de Janvier 2019 à Décembre 2021 à Libreville. (bvsalud.org)
  • Their dysmorphic features were non-specific, except for macrocephaly. (biomedcentral.com)
  • The features of OPTB1 are macrocephaly, progressive deafness and blindness, hepatosplenomegaly, and severe anemia beginning in early infancy or in fetal life. (lu.se)
  • The presence of any of these signs or symptoms can be indicative of macrocephaly, and it is important to go to the pediatrician to have the CP measured. (thelightlifeblog.com)
  • In addition to the treatment may vary according to the cause of macrocephaly, it may also vary according to the signs and symptoms presented by the child and, therefore, psychotherapy, physiotherapy and speech therapy sessions may be recommended. (thelightlifeblog.com)
  • Macrocephaly can be identified even in the prenatal period through the performance of obstetric ultrasound, where CP is measured, and in this way it is possible to guide women and their families at an early stage. (thelightlifeblog.com)
  • Environmental events associated with macrocephaly include infection, neonatal intraventricular hemorrhage (bleeding within the infant brain), subdural hematoma (bleeding beneath the outer lining of the brain), subdural effusion (collection of fluid beneath the outer lining of the brain), and arachnoid cysts (cysts on the brain surface). (wikipedia.org)
  • Many people with abnormally large heads or large skulls are healthy, but macrocephaly may be pathological. (wikipedia.org)
  • The term macrocephaly means "large head. (isuog.org)
  • In addition, macrocephaly can happen as a consequence of bone diseases, especially between 6 months and 2 years, such as osteoporosis, hypophosphatemia, imperfect osteogenesis and rickets, which is a disease characterized by the absence of vitamin D, which is the vitamin responsible for absorption of calcium in the intestine and deposition in the bones. (thelightlifeblog.com)
  • Macrocephaly in children with developmental disabilities. (medscape.com)
  • Pathologic macrocephaly is called "syndromic", when it is associated with any other noteworthy condition, and "nonsyndromic" otherwise. (wikipedia.org)
  • Macrocephaly is a relatively rare condition but has multiple etiologies, therefore the incidence and prevalence has not been documented by many studies. (medscape.com)
  • This condition is termed macrocephaly and is associated with many neurological conditions. (phrma.org)
  • Physical examination was notable only for macrocephaly. (upmc.edu)