Craniofacial Abnormalities
Facial Bones
Macroglossia
Ectromelia
Palate
Abnormalities, Multiple
Branchial Region
Neural Crest
Zebrafish
Gene Expression Regulation, Developmental
Phenotype
Craniofacial Dysostosis
Face
Skull Base
Mandible
Mandibulofacial Dysostosis
Frontal Bone
Head
Cleft Lip
A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. (1/620)
Microdeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans. A screen for mouse genes dependent on dHAND, a transcription factor implicated in neural crest development, identified Ufd1, which maps to human 22q11 and encodes a protein involved in degradation of ubiquitinated proteins. Mouse Ufd1 was specifically expressed in most tissues affected in patients with 22q11 deletion syndrome. The human UFD1L gene was deleted in all 182 patients studied with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 of UFD1L was found in one individual with features typical of 22q11 deletion syndrome. These data suggest that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion. (+info)2,3,7,8-Tetrachlorodibenzo-p-dioxin alters cardiovascular and craniofacial development and function in sac fry of rainbow trout (Oncorhynchus mykiss). (2/620)
Hallmark signs of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) toxicity in rainbow trout sac fry, are yolk sac edema, hemorrhage, craniofacial malformation, and growth retardation culminating in mortality. Our objective was to determine the role of cardiovascular dysfunction in the development of this toxicity. An embryotoxic TCDD dose (385 pg/g egg) caused a progressive reduction in blood flow in rainbow trout sac fry manifested first and most dramatically in the 1st and 2nd branchial arches and vessels perfusing the lower jaw. Blood flow was reduced later in the infraorbital artery and occipital vein of the head as well as segmental vessels and caudal vein of the trunk. Reduced perfusion occurred last in gill branchial arteries involved with oxygen uptake and the subintestinal vein and vitelline vein involved with nutrient uptake. Although heart rate throughout sac fry development was not affected, heart size at 50 days post-fertilization (dpf) was reduced far more than body weight or length, suggesting that the progressive circulatory failure caused by TCDD is associated with reduced cardiac output. Craniofacial development was arrested near hatch, giving rise to craniofacial malformations in which the jaws and anterior nasal structures were underdeveloped. Unlike the medaka embryo, in which TCDD causes apoptosis in the medial yolk vein, endothelial cell death was not observed in rainbow trout sac fry. These findings suggest a primary role for arrested heart development and reduced perfusion of tissues with blood in the early-life stage toxicity of TCDD in trout. (+info)Smad5 knockout mice die at mid-gestation due to multiple embryonic and extraembryonic defects. (3/620)
Smad5 has been implicated as a downstream signal mediator for several bone morphogenetic proteins (BMPs). To understand the in vivo function of Smad5, we generated mice deficient in Smad5 using embryonic stem (ES) cell technology. Homozygous mutant embryos die between E9.5 and E11.5, and display variable phenotypes. Morphological defects are first detected at E8.0 in the developing amnion, gut and heart (the latter defect being similar to BMP-2 knockout mice). At later stages, mutant embryos fail to undergo proper turning, have craniofacial and neural tube abnormalities, and are edematous. In addition, several extraembryonic lesions are observed. After E9.0, the yolk sacs of the mutants contain red blood cells but lack a well-organized vasculature, which is reminiscent of BMP-4, TGF-beta1 and TGF-beta type II receptor knockout mice. In addition, the allantois of many Smad5 mutants is fused to the chorion, but is not well-elongated. A unique feature of the Smad5 mutant embryos is that ectopic vasculogenesis and hematopoiesis is observed in the amnion, likely due to mislocation of allantois tissue. Despite the expression of Smad5 from gastrulation onwards, and in contrast to knockouts of Smad2 and Smad4, Smad5 only becomes essential later in extraembryonic and embryonic development. (+info)Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome. (4/620)
Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic DNA analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome. (+info)Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. (5/620)
Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although partial clinical overlap exists between CS and BZS, they are considered to be separate entities. PTEN has been identified as the susceptibility gene for both disorders, suggesting allelism. We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS. To our knowledge, this is the first report that shows the presence of separate subjects with CS and with BZS in a single family associated with a single germline PTEN mutation. (+info)The face of Smith-Magenis syndrome: a subjective and objective study. (6/620)
We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of "gestalt" and detailed facial measurement, using previously published methodology, with compilation of Z score pattern profiles. The facial phenotype of SMS is quite distinctive, even in the young child. The overall face shape is broad and square. The brows are heavy, with excessive lateral extension of the eyebrows. The eyes slant upwards and appear close set and deep set. The nose has a depressed root and, in the young child, a scooped bridge. With time, the bridge becomes more ski jump shaped. The height of the nose is markedly reduced while the nasal base is broad and the tip of the nose is full. The shape of the mouth and upper lip are most distinctive. The mouth is wide with full upper and lower lips. The central portion of the upper lip is fleshy and everted with bulky philtral pillars, producing a tented appearance that, in profile, is striking. With age, mandibular growth is greater than average and exceeds that of the maxilla. This leads to increased jaw width and protrusion and marked midface hypoplasia. Craniofacial pattern analysis supports these subjective impressions. After mid-childhood, mandibular dimensions consistently exceed their maxillary counterparts. Craniofacial widths are greater than corresponding depths and heights. Nasal height is reduced while nasal width is increased. There is mild brachycephaly. The most marked age related changes are increased width of the nose and lower face (mandibular width) with reduction in nasal height and midfacial depth. (+info)PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (7/620)
Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR). PTEN maps to 10q23 and encodes a dual specificity phosphatase, a substrate of which is phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol 3-kinase pathway. CS is characterized by multiple hamartomas and an increased risk of benign and malignant disease of the breast, thyroid and central nervous system, whilst the presence of cancer has not been formally documented in BRR. The partial clinical overlap in these two syndromes is exemplified by the hallmark features of BRR: macrocephaly and multiple lipomas, the latter of which occur in a minority of individuals with CS. Additional features observed in BRR, which may also occur in a minority of CS patients, include Hashimoto's thyroiditis, vascular malformations and mental retardation. Pigmented macules of the glans penis, delayed motor development and neonatal or infant onset are noted only in BRR. In this study, constitutive DNA samples from 43 BRR individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both CS and BRR, were screened for PTEN mutations. Mutations were identified in 26 of 43 (60%) BRR cases. Genotype-phenotype analyses within the BRR group suggested a number of correlations, including the association of PTEN mutation and cancer or breast fibroadenoma in any given CS, BRR or BRR/CS overlap family ( P = 0.014), and, in particular, truncating mutations were associated with the presence of cancer and breast fibroadenoma in a given family ( P = 0.024). Additionally, the presence of lipomas was correlated with the presence of PTEN mutation in BRR patients ( P = 0.028). In contrast to a prior report, no significant difference in mutation status was found in familial versus sporadic cases of BRR ( P = 0.113). Comparisons between BRR and a previously studied group of 37 CS families suggested an increased likelihood of identifying a germline PTEN mutation in families with either CS alone or both CS and BRR when compared with BRR alone ( P = 0.002). Among CS, BRR and BRR/CS overlap families that are PTEN mutation positive, the mutation spectra appear similar. Thus, PTEN mutation-positive CS and BRR may be different presentations of a single syndrome and, hence, both should receive equal attention with respect to cancer surveillance. (+info)Differential responses to parathyroid hormone-related protein (PTHrP) deficiency in the various craniofacial cartilages. (8/620)
PTHrP null mutant mice exhibit skeletal abnormalities both in the craniofacial region and limbs. In the growth plate cartilage of the null mutant, a diminished number of proliferating chondrocytes and accelerated chondrocytic differentiation are observed. In order to examine the effect of PTHrP deficiency on the craniofacial morphology and highlight the differential feature of the composing cartilages, we examined the various cartilages in the craniofacial region of neonatal PTHrP deficient mice. The major part of the cartilaginous anterior cranial base appeared to be normal in the homozygous PTHrP deficient mice. However, acceleration of chondrocytic differentiation and endochondral bone formation was observed in the posterior part of the anterior cranial base and in the cranial base synchondroses. Ectopic bone formation was observed in the soft tissue-running mid-portion of the Meckel's cartilage, where the cartilage degenerates and converts to ligament in the course of normal development. The zonal structure of the mandibular condylar cartilage was scarcely affected, but the whole condyle was reduced in size. These results suggest the effect of PTHrP deficiency varies widely between the craniofacial cartilages, according to the differential features of each cartilage. (+info)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.
The facial bones, also known as the facial skeleton, are a series of bones that make up the framework of the face. They include:
1. Frontal bone: This bone forms the forehead and the upper part of the eye sockets.
2. Nasal bones: These two thin bones form the bridge of the nose.
3. Maxilla bones: These are the largest bones in the facial skeleton, forming the upper jaw, the bottom of the eye sockets, and the sides of the nose. They also contain the upper teeth.
4. Zygomatic bones (cheekbones): These bones form the cheekbones and the outer part of the eye sockets.
5. Palatine bones: These bones form the back part of the roof of the mouth, the side walls of the nasal cavity, and contribute to the formation of the eye socket.
6. Inferior nasal conchae: These are thin, curved bones that form the lateral walls of the nasal cavity and help to filter and humidify air as it passes through the nose.
7. Lacrimal bones: These are the smallest bones in the skull, located at the inner corner of the eye socket, and help to form the tear duct.
8. Mandible (lower jaw): This is the only bone in the facial skeleton that can move. It holds the lower teeth and forms the chin.
These bones work together to protect vital structures such as the eyes, brain, and nasal passages, while also providing attachment points for muscles that control chewing, expression, and other facial movements.
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.
Macroglossia is a medical term that refers to an abnormally large tongue in relation to the size of the oral cavity. It can result from various conditions, including certain genetic disorders (such as Down syndrome and Beckwith-Wiedemann syndrome), hormonal disorders (such as acromegaly), inflammatory diseases (such as amyloidosis), tumors or growths on the tongue, or neurological conditions. Macroglossia can cause difficulties with speaking, swallowing, and breathing, particularly during sleep. Treatment depends on the underlying cause but may include corticosteroids, radiation therapy, surgery, or a combination of these approaches.
Ectromelia is a medical term that refers to the congenital absence or malformation of a limb or extremity. It is also known as "congenital amputation" or "limb reduction defect." This condition can affect any extremity, including arms, legs, hands, or feet, and can range from mild, such as a missing finger or toe, to severe, such as the absence of an entire limb.
Ectromelia can be caused by various factors, including genetic mutations, environmental factors, or a combination of both. In some cases, the cause may be unknown. Treatment options for ectromelia depend on the severity and location of the malformation and may include prosthetics, physical therapy, or surgery.
The palate is the roof of the mouth in humans and other mammals, separating the oral cavity from the nasal cavity. It consists of two portions: the anterior hard palate, which is composed of bone, and the posterior soft palate, which is composed of muscle and connective tissue. The palate plays a crucial role in speech, swallowing, and breathing, as it helps to direct food and air to their appropriate locations during these activities.
'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.
The branchial region, also known as the pharyngeal region or viscerocranium, is a term used in human anatomy to refer to the area of the developing embryo that gives rise to structures derived from the branchial (or pharyngeal) arches. The branchial arches are a series of paired, rod-like structures that appear early in embryonic development and give rise to various head and neck structures, including the bones and muscles of the face, jaws, and neck, as well as the associated nerves, blood vessels, and connective tissues.
The branchial region is divided into several subregions, each corresponding to a specific branchial arch. The first branchial arch gives rise to structures such as the mandible (lower jaw), maxilla (upper jaw), and muscles of mastication (chewing). The second branchial arch forms the stapes and styloid process in the ear, as well as some neck muscles. The third and fourth branchial arches contribute to the formation of the larynx, thyroid cartilage, and other structures in the neck.
Abnormalities in the development of the branchial region can lead to a variety of congenital defects, such as cleft palate, micrognathia (small jaw), and branchial cysts or sinuses. These conditions may require surgical intervention to correct.
Cleft palate is a congenital birth defect that affects the roof of the mouth (palate). It occurs when the tissues that form the palate do not fuse together properly during fetal development, resulting in an opening or split in the palate. This can range from a small cleft at the back of the soft palate to a complete cleft that extends through the hard and soft palates, and sometimes into the nasal cavity.
A cleft palate can cause various problems such as difficulty with feeding, speaking, hearing, and ear infections. It may also affect the appearance of the face and mouth. Treatment typically involves surgical repair of the cleft palate, often performed during infancy or early childhood. Speech therapy, dental care, and other supportive treatments may also be necessary to address related issues.
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.
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.
A zebrafish is a freshwater fish species belonging to the family Cyprinidae and the genus Danio. Its name is derived from its distinctive striped pattern that resembles a zebra's. Zebrafish are often used as model organisms in scientific research, particularly in developmental biology, genetics, and toxicology studies. They have a high fecundity rate, transparent embryos, and a rapid development process, making them an ideal choice for researchers. However, it is important to note that providing a medical definition for zebrafish may not be entirely accurate or relevant since they are primarily used in biological research rather than clinical medicine.
Developmental gene expression regulation refers to the processes that control the activation or repression of specific genes during embryonic and fetal development. These regulatory mechanisms ensure that genes are expressed at the right time, in the right cells, and at appropriate levels to guide proper growth, differentiation, and morphogenesis of an organism.
Developmental gene expression regulation is a complex and dynamic process involving various molecular players, such as transcription factors, chromatin modifiers, non-coding RNAs, and signaling molecules. These regulators can interact with cis-regulatory elements, like enhancers and promoters, to fine-tune the spatiotemporal patterns of gene expression during development.
Dysregulation of developmental gene expression can lead to various congenital disorders and developmental abnormalities. Therefore, understanding the principles and mechanisms governing developmental gene expression regulation is crucial for uncovering the etiology of developmental diseases and devising potential therapeutic strategies.
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.
Maxillofacial development refers to the growth and formation of the bones, muscles, and soft tissues that make up the face and jaw (maxillofacial region). This process begins in utero and continues throughout childhood and adolescence. It involves the coordinated growth and development of multiple structures, including the upper and lower jaws (maxilla and mandible), facial bones, teeth, muscles, and nerves.
Abnormalities in maxillofacial development can result in a range of conditions, such as cleft lip and palate, jaw deformities, and craniofacial syndromes. These conditions may affect a person's appearance, speech, chewing, and breathing, and may require medical or surgical intervention to correct.
Healthcare professionals involved in the diagnosis and treatment of maxillofacial developmental disorders include oral and maxillofacial surgeons, orthodontists, pediatricians, geneticists, and other specialists.
Craniofacial dysostosis is a term used to describe a group of rare genetic disorders that affect the development of the skull and face. These conditions are characterized by cranial and facial abnormalities, including a misshapen head, wide-set eyes, a beaked nose, and underdeveloped jaws.
The most common type of craniofacial dysostosis is Crouzon syndrome, which is caused by mutations in the FGFR2 gene. Other types include Apert syndrome (caused by mutations in the FGFR2 or FGFR3 gene), Pfeiffer syndrome (caused by mutations in the FGFR1 or FGFR2 gene), and Saethre-Chotzen syndrome (caused by mutations in the TWIST1 gene).
These conditions can vary in severity, but they often cause complications such as breathing difficulties, vision problems, hearing loss, and developmental delays. Treatment typically involves a team of specialists, including craniofacial surgeons, orthodontists, ophthalmologists, and audiologists, and may include surgery to correct the structural abnormalities and improve function.
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.
In medical terms, the face refers to the front part of the head that is distinguished by the presence of the eyes, nose, and mouth. It includes the bones of the skull (frontal bone, maxilla, zygoma, nasal bones, lacrimal bones, palatine bones, inferior nasal conchae, and mandible), muscles, nerves, blood vessels, skin, and other soft tissues. The face plays a crucial role in various functions such as breathing, eating, drinking, speaking, seeing, smelling, and expressing emotions. It also serves as an important identifier for individuals, allowing them to be recognized by others.
The skull base is the lower part of the skull that forms the floor of the cranial cavity and the roof of the facial skeleton. It is a complex anatomical region composed of several bones, including the frontal, sphenoid, temporal, occipital, and ethmoid bones. The skull base supports the brain and contains openings for blood vessels and nerves that travel between the brain and the face or neck. The skull base can be divided into three regions: the anterior cranial fossa, middle cranial fossa, and posterior cranial fossa, which house different parts of the brain.
The mandible, also known as the lower jaw, is the largest and strongest bone in the human face. It forms the lower portion of the oral cavity and plays a crucial role in various functions such as mastication (chewing), speaking, and swallowing. The mandible is a U-shaped bone that consists of a horizontal part called the body and two vertical parts called rami.
The mandible articulates with the skull at the temporomandibular joints (TMJs) located in front of each ear, allowing for movements like opening and closing the mouth, protrusion, retraction, and side-to-side movement. The mandible contains the lower teeth sockets called alveolar processes, which hold the lower teeth in place.
In medical terminology, the term "mandible" refers specifically to this bone and its associated structures.
Mandibulofacial dysostosis is a genetic disorder that affects the development of the face and jaw. It is characterized by underdevelopment of the lower jaw (mandible) and facial bones, which can result in distinctive facial features such as a small chin, cleft palate, hearing loss, and dental abnormalities. This condition is often associated with other health issues, including respiratory problems and developmental delays. Mandibulofacial dysostosis is typically inherited in an autosomal dominant pattern, which means that only one copy of the altered gene is necessary to cause the disorder. It can also occur spontaneously due to a new genetic mutation. The specific symptoms and severity of mandibulofacial dysostosis can vary widely from person to person.
The frontal bone is the bone that forms the forehead and the upper part of the eye sockets (orbits) in the skull. It is a single, flat bone that has a prominent ridge in the middle called the superior sagittal sinus, which contains venous blood. The frontal bone articulates with several other bones, including the parietal bones at the sides and back, the nasal bones in the center of the face, and the zygomatic (cheek) bones at the lower sides of the orbits.
In medical terms, the jaw is referred to as the mandible (in humans and some other animals), which is the lower part of the face that holds the lower teeth in place. It's a large, horseshoe-shaped bone that forms the lower jaw and serves as a attachment point for several muscles that are involved in chewing and moving the lower jaw.
In addition to the mandible, the upper jaw is composed of two bones known as the maxillae, which fuse together at the midline of the face to form the upper jaw. The upper jaw holds the upper teeth in place and forms the roof of the mouth, as well as a portion of the eye sockets and nasal cavity.
Together, the mandible and maxillae allow for various functions such as speaking, eating, and breathing.
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.
Tooth abnormalities refer to any variations or irregularities in the size, shape, number, structure, or development of teeth that deviate from the typical or normal anatomy. These abnormalities can occur in primary (deciduous) or permanent teeth and can be caused by genetic factors, environmental influences, systemic diseases, or localized dental conditions during tooth formation.
Some examples of tooth abnormalities include:
1. Microdontia - teeth that are smaller than normal in size.
2. Macrodontia - teeth that are larger than normal in size.
3. Peg-shaped teeth - teeth with a narrow, conical shape.
4. Talon cusps - additional cusps or points on the biting surface of a tooth.
5. Dens invaginatus - an abnormal development where the tooth crown has an extra fold or pouch that can trap bacteria and cause dental problems.
6. Taurodontism - teeth with large pulp chambers and short roots.
7. Supernumerary teeth - having more teeth than the typical number (20 primary and 32 permanent teeth).
8. Hypodontia - missing one or more teeth due to a failure of development.
9. Germination - two adjacent teeth fused together, usually occurring in the front teeth.
10. Fusion - two separate teeth that have grown together during development.
Tooth abnormalities may not always require treatment unless they cause functional, aesthetic, or dental health issues. A dentist can diagnose and manage tooth abnormalities through various treatments, such as fillings, extractions, orthodontic care, or restorative procedures.
Cleft lip is a congenital birth defect that affects the upper lip, causing it to develop incompletely or split. This results in an opening or gap in the lip, which can range from a small split to a significant separation that extends into the nose. Cleft lip is often accompanied by cleft palate, which is a similar condition affecting the roof of the mouth.
The medical definition of cleft lip is as follows:
A congenital deformity resulting from failure of fusion of the maxillary and medial nasal processes during embryonic development, leading to a varying degree of separation or split in the upper lip, ranging from a minor notch to a complete cleft extending into the nose. It may occur as an isolated anomaly or in association with other congenital defects, such as cleft palate.
Cleft lip can be surgically corrected through various reconstructive procedures, typically performed during infancy or early childhood. The specific treatment plan depends on the severity and location of the cleft, as well as any associated medical conditions. Early intervention and comprehensive care from a multidisciplinary team of healthcare professionals are crucial for optimal outcomes in cleft lip repair.
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Craniofacial abnormality
Filippi syndrome
Kleeblattschaedel
Melnick-Needles syndrome
Oto-palato-digital syndrome
Sleep apnea
Craniosynostosis
Musculoskeletal abnormality
Bioelectricity
Langer-Giedion syndrome
Fetal alcohol spectrum disorder
Long face syndrome
Evolution of schizophrenia
Encephalocele
SIM2
MAP3K7
Arrhinia
Human genetics
Hearing loss with craniofacial syndromes
Infantile Refsum disease
PAX6
Douglas W. Owsley
3-M syndrome
Weaver syndrome
Chromosome 22
PAX9
Ogden syndrome
TFAP2A
Microdeletion syndrome
HOXA7
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Hearing loss promotes schizophrenia-relevant brain and behavioral abnormalities in a mouse model of human 22q11.2 Deletion...
22q11 Deletion Syndrome | Harvard Catalyst Profiles | Harvard Catalyst
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A multi-program analysis of cleft lip with cleft palate prevalence and mortality using data from 22 International Clearinghouse...
Craniofacial Anomalies | University Hospitals
b2b370Clo Chemically induced Allele Detail MGI Mouse (MGI:5311366)
Anomalies5
- Global registry and database on craniofacial anomalies : report of a WHO Registry Meeting on Craniofacial Anomalies / Main editors: P. Mossey, E. Catilla. (who.int)
- Clinical manifestations were intellectual disability or developmental delay (15 patients ), craniofacial anomalies (15 patients ), behavioral abnormalities (12 patients ), seizures (9 patients ), and overgrowth (8 patients ). (bvsalud.org)
- IDDBCS should be considered when patients show nervous developmental abnormalities, craniofacial anomalies, seizures and overgrowth. (bvsalud.org)
- Albert S. Woo, MD, FACS is a board-certified plastic and reconstructive surgeon who has over a decade of experience in the specialized team care of patients with craniofacial anomalies and cleft deformities. (lifespan.org)
- With more than 50 peer-reviewed publications, Dr. Woo remains committed not only to clinical excellence but also to performing research in the treatment of craniofacial anomalies. (lifespan.org)
Congenital Craniofacial and Musculoskeletal Abnormalities1
- Introduction to Congenital Craniofacial and Musculoskeletal Abnormalities Craniofacial and musculoskeletal abnormalities are common among children. (merckmanuals.com)
Pediatric Plastic2
- Patrick Gerety, MD specializes in pediatric plastic surgery and cleft and craniofacial surgery. (stlukesonline.org)
- His postgraduate residency involved both a preliminary focus on general surgery and a full plastic surgery residency, and was followed by fellowship training in pediatric plastic surgery and craniofacial surgery at St. Louis Children's Hospital. (stlukesonline.org)
Skeletal abnormalities3
- We saw some pretty severe skeletal abnormalities that included both cranio-facial and spinal deformities. (sciencedaily.com)
- Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities. (nih.gov)
- Skeletal abnormalities may include a curved spine, unusual prominence of the breastbone (pigeon chest), short stature, and narrowing of the spinal canal. (nih.gov)
Syndromes4
- Children with craniofacial syndromes, neuromuscular diseases, medical comorbidities, or severe obstructive sleep apnea, and those younger than three years are at increased risk of developing postoperative complications and should be monitored overnight in the hospital. (aafp.org)
- Children with craniofacial syndromes have fixed anatomic variations that predispose them to airway obstruction, while in children with neuromuscular disease, obstruction is caused by hypotonia. (aafp.org)
- Craniofacial syndromes are a posh cluster of genetic situations characterised by embryonic perturbations within the developmental trajectory of the higher airway and associated buildings. (holliseden.com)
- It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
Craniosynostosis3
- He or she coordinates all surgeries with the craniofacial surgeons (for example, craniosynostosis). (stanfordchildrens.org)
- In addition, he is able to correct other craniofacial abnormalities, including craniosynostosis, in one surgery more than 95% of the time. (stlukesonline.org)
- Dr. Woo's clinical interests include the surgical treatment of patients with craniosynostosis, complex and syndromic craniofacial abnormalities, and cleft deformities. (lifespan.org)
Musculoskeletal disorders1
- Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones. (wikipedia.org)
Malformations5
- Genetic defects that affect neural crest cell generation, migration, proliferation, or differentiation result in cardio-craniofacial malformations, including cleft lip and cleft palate,' explained Assistant Professor Manvendra Singh, the study's corresponding author from the Cardiovascular and Metabolic Disorders Programme at Duke-NUS Medical School, Singapore. (healthxchange.sg)
- In addition to increased schizophrenia susceptibility, 22q11.2DS is also associated with over 100 different malformations and clinical presentations including heart defects, immune dysfunction, hypocalcaemia, and craniofacial abnormalities such as cleft palate ( Paylor and Lindsay, 2006 ). (biorxiv.org)
- He is especially focused on structural brain malformations and disrupted craniofacial skeletal development: congenital malformations of craniofacial development. (nationwidechildrens.org)
- Beulah studies patient craniofacial diseases with a genetic basis and modeling these in mice and the role of TNRC6A in primary microcephaly and CTBP1-ALPL in skeletal malformations. (nationwidechildrens.org)
- All infants had brain abnormalities on neuroimaging consistent with congenital Zika syndrome, including decreased brain volume, ventriculomegaly, subcortical calcifications, and cortical malformations. (cdc.gov)
Deformities1
- Developmental abnormalities such as altered craniofacial growth and dental/tooth deformities occur with cancer treatment during developmental periods. (1stdentist.com)
Cleft lip2
- Head and face abnormalities, such as cleft lip or palate, are among the most common birth defects, contributing to over a third of congenital diseases. (healthxchange.sg)
- Russell Griffiths, MD is a pediatric plastic surgeon specializing in care for children born with cleft lip, cleft palate, microtia, Pierre Robin Sequence, hemifacial microsomia, or other craniofacial abnormalities. (stlukesonline.org)
Severe4
- Individuals with this form also have severe abnormalities in the development of the skull and face (craniofacial abnormalities). (medlineplus.gov)
- If casting is not successful and the abnormality is severe, surgery may be required. (merckmanuals.com)
- Congenital Zika virus infection can cause microcephaly and severe brain abnormalities. (cdc.gov)
- As more information about the associated clinical syndrome becomes available, the phenotype is expanding to include other, sometimes less severe features, such as brain abnormalities without congenital microcephaly. (cdc.gov)
Cardiovascular2
- Understanding the molecular mechanism underlying craniofacial and cardiovascular abnormalities helps us to better understand the aetiology of these congenital diseases, with a view to discovering new treatment possibilities,' remarked Professor Patrick Casey, Senior Vice Dean for Research at Duke-NUS. (healthxchange.sg)
- Our future work in this direction will help to understand the transcriptional network underlying the congenital craniofacial and cardiovascular defects. (healthxchange.sg)
20191
- La información más reciente sobre el nuevo Coronavirus de 2019, incluidas las clínicas de vacunación para niños de 6 meses en adelante. (stanfordchildrens.org)
Gene2
- A case of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures caused by PHF21A gene variation and review of literature]. (bvsalud.org)
- Several HCFC1 gene variants (also known as mutations) have been identified in people with methylmalonic acidemia with homocystinuria, cblX type, which is one form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. (medlineplus.gov)
Surgeons2
- Dr. Woo currently is a member of the American College of Surgeons, the American Society of Maxillofacial Surgeons, the American Cleft Palate-Craniofacial Association, the American Associate of Plastic Surgeons, and the American Society of Plastic Surgeons. (lifespan.org)
- Craniofacial surgeons specialize in the correction of skull shape abnormalities. (bca.org)
Syndromic1
- These abnormalities most often exist in a syndromic context but may appear isolated because of the difficulty of association with other clinical signs. (igbmc.fr)
Reconstructive Surgery1
- This drawing, along with the life-size photograph provided a guide for the craniofacial surgeon to perform reconstructive surgery. (bca.org)
Behavioral4
- To discuss the clinical and genetic features of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). (bvsalud.org)
- Here, we used the Df1 /+ mouse model of 22q11.2DS to investigate the relationship between hearing loss and susceptibility to schizophrenia-relevant brain and behavioral abnormalities. (biorxiv.org)
- These results reveal bottom-up neurobiological mechanisms through which peripheral hearing loss arising from the 22q11.2 deletion may promote the emergence of schizophrenia-relevant auditory brain and behavioral abnormalities, and also suggest a link between conductive hearing loss and reduced PV+ interneuron density in the auditory cortex. (biorxiv.org)
- These results suggest mechanisms through which hearing loss associated with the 22q11.2 deletion may promote emergence of schizophrenia-relevant auditory brain and behavioral abnormalities and indicate that conductive hearing loss may influence PV+ interneuron density in the auditory cortex. (biorxiv.org)
Reconstruction1
- A highlight of my time at Sick Kids as it is now known, was facial mapping for the craniofacial reconstruction team. (bca.org)
Circumference2
- A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. (bvsalud.org)
- Early neuroimaging might identify brain abnormalities related to congenital Zika infection even among infants with a normal head circumference ( 4 ). (cdc.gov)
Growth4
- SDM OR 803: Clinical Growth and Development This course discusses clinical aspects of craniofacial growth and development for the orthodontist. (glassbox.tv)
- The organization and complexity of growth and development is clearly evident in the changes that take place in the head and face.Craniofacial growth is a complex process. (glassbox.tv)
- A large variation in craniofacial growth in the vertical dimension should play a prominent role in orthodontist's approach to the diagnosis and treatment of malocclusion. (glassbox.tv)
- Orthodontics & Craniofacial Research - Genes, Growth and Development is published to serve its readers as an international forum for the presentation and critical discussion of issues pertinent to the advancement of the specialty of orthodontics and the evidence-based knowledge of craniofacial growth and development. (glassbox.tv)
Child's3
- Other abnormalities are sought, and the child's mental development is carefully assessed. (medscape.com)
- The best time for the first evaluation of craniofacial abnormalities is within your child's first few weeks of life. (stanfordchildrens.org)
- A healthcare provider who will help evaluate and manage ear infections and hearing loss that may be side effects of your child's cleft abnormality. (stanfordchildrens.org)
Neural3
- The researchers showed that neural crest cells from mice create a splicing factor called Rbfox2, which regulates the expression of numerous genes essential for neural crest and craniofacial development. (healthxchange.sg)
- Neural crest-specific deletion of Rbfox2 in mice leads to craniofacial abnormalities including cleft palate. (healthxchange.sg)
- Neurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities. (harvard.edu)
Syndrome1
- Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
Anatomic1
- Factors affecting upper-airway size or patency include numerous anatomic variants and abnormalities (eg, nasal obstruction, retrognathia, macroglossia ), obesity, alcohol or sedative intake, and body position during sleep. (medscape.com)
Mice1
- Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia. (jax.org)
Diagnosis1
- A surgeon with specialized training in the diagnosis and treatment of abnormalities of the skull, facial bones, and soft tissue. (stanfordchildrens.org)
Spinal1
- Clinics are also held at the Liverpool Women's Hospital for families of babies diagnosed with abnormalities in their brain or spinal cord. (alderhey.nhs.uk)
Diseases1
- Its abnormalities manifest themselves in various diseases, including sclerosing bone disorder (SBD). (nature.com)
Skull1
- Craniofacial is a medical term that relates to the bones of the skull and face. (medlineplus.gov)
Airway2
- The presence of diminished airway dimension and maladaptive neuromuscular responses, significantly throughout sleep, results in vital alterations in sleep structure and general detrimental gasoline alternate abnormalities that may be life-threatening. (holliseden.com)
- Each child underwent a routine orthodontic examination of the upper, lower and total face height, hyoid position, soft palate length, mandibular length, vertical airway length, overjet and overbite to determine craniofacial characteristics. (scienceblog.com)
Orthodontics2
Genetic1
- A genetic counselor also counsels your family on risk for craniofacial abnormalities to happen in future pregnancies. (stanfordchildrens.org)
Children4
- Children with a cleft require surgery to repair the abnormality within the first 2 years of life. (bmj.com)
- Craniofacial abnormalities, such as small jaw, narrow upper arch, or high palatal, are considered a common cause of SDB in children. (scienceblog.com)
- Our study and previous studies report that craniofacial abnormalities are an important cause of sleep apnea in children. (dentistrytoday.com)
- Also, studies have been in progress about the use of dental appliances in the treatment of sleep apnea in children with dental or facial abnormalities contributing to the obstruction. (dentistrytoday.com)
Findings1
- These findings provide evidence that among infants with prenatal exposure to Zika virus, the absence of microcephaly at birth does not exclude congenital Zika virus infection or the presence of Zika-related brain and other abnormalities. (cdc.gov)
Surgeon1
- Plastic/craniofacial surgeon. (stanfordchildrens.org)
Head1
- Craniofacial abnormalities are birth defects of the face or head. (medlineplus.gov)
Surgery1
- He also completed a fellowship in craniofacial surgery at the University of Washington School of Medicine in Seattle. (lifespan.org)
Physical1
- Physical examination showed special craniofacial appearances including a prominent high forehead , sparse eyebrows , broad nasal bridge , and downturned mouth with a tent-shaped upper lip . (bvsalud.org)
Structural1
- So, dentists have an important role in identifying any structural abnormalities causing obstructions to breathing during sleep," Kilaikode said. (dentistrytoday.com)
Development1
- Odontogenesis is part of the dynamics of craniofacial development. (igbmc.fr)
Complex2
- Fibro osseous lesions of the craniofacial complex are represented by a variety of processes characterized by ununsual calcifications of one or multiple regions of the body. (bvsalud.org)
- Among these lesions, Paget's disease of bone, is a condition that occurs in three stages of bone formation, typically leading to loss of morphofunctional and long bones of the craniofacial complex. (bvsalud.org)
Team4
- Detailed information on craniofacial abnormalities and the craniofacial treatment team. (uhhospitals.org)
- Our team runs outpatient clinics at Alder Hey and at the University Hospital of North Midlands in Stoke, as well as craniofacial clinics in Belfast. (alderhey.nhs.uk)
- When should my child see a craniofacial team? (stanfordchildrens.org)
- He or she acts as liaison between your family and the craniofacial team. (stanfordchildrens.org)
Birth3
- Thalidomide, a drug capable of causing fetal abnormalities (teratogen), has caused greater than ten thousand birth defects worldwide since its introduction to the market as a pharmaceutical agent. (asu.edu)
- Craniofacial abnormalities are among the most common of all birth defects. (bmj.com)
- however, microcephaly might not be evident at birth but can develop after birth in infants with underlying brain abnormalities. (cdc.gov)