This page provides an index into detailed material appropriate
to the general clinician or the informed patient/family member.
| Condition |
Detailed
Article |
| Amelogenesis imperfecta:
Amelogenesis imperfecta is a heterogeneous group of genetic defects in the enamel covering of teeth. Autosomal dominant, autosomal recessive and X-linked forms of the disease have been described and affects both primary and permanent teeth. |
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| Apert Syndrome:
This syndrome involves abnormalities of head shape and hand/foot development. The fingers and toes are fused together, giving the appearance of a mitten or sock. It can also be associated with internal organ malformations. |
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| Autosomal Dominant Familial Tooth Agenesis:
Autosomal dominant hypodontia is the variable absence of the second bicuspids and third molars and is caused in some families by mutations in the MSX1 gene or PAX9 gene. It affects both primary and secondary teeth. An older term, partial anodontia, is considered obsolete and familial hypodontia is the preferred term. |
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| Beare-Stevenson Cutis Gyrata Syndrome:
Beare-Stevenson syndrome consists of congenital skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. |
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| Branchio-Oto-Renal Syndrome (Melnick-Fraser Syndrome):
This syndrome, also called BOR, includes pits or sinuses on the neck (Branchial abnormality), abnormalities of the inner and/or external ear including hearing loss, and renal (kidney)abnormaltities. |
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| Carpenter Syndrome:
This syndrome combines abnormal head shape with foot abnormalities (usually an extra great toe with fusion of two or more toes together). About half of individuals with this condition may have heart defects. |
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| Catch-22:
CATCH-22 is one of a number of names used for the chromosome deletion 22q11 syndrome, which is a condition that features cleft palate and congenital heart defects. |
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| Cleft lip with or without cleft palate:
An incomplete formation of the upper lip or roof of the mouth (palate), leaving a hole or notch in the affected area. Clefting is a common birth defect and may be surgically repaired. It may occur alone or as part of a genetic syndrome. |
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| Cleidocranial Dysplasia (Cleidocranial Dysostosis):
Cleidocranial dysplasia is a genetic condition that features problems with the development of bones and teeth. |
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| Craniosynostosis:
A variety of conditions in which the bones of the skull join together too early, affecting the development and shape of the skull. Craniosynostosis may occur alone or as part of a genetic syndrome. |
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| Crouzon Syndrome:
This syndrome invoves abnormal head shape due to early fusion of the skull bones. There are also certain facial features which typify this condition. Abnormal development is generally limited to the skull and face without involvement of other body regions. It may be inherited through the family. |
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| Deletion 22q11 Syndrome:
Deletion 22q11 syndrome is the preferred name for a condition that features cleft palate and congenital heart defects. The deletion 22q11 syndrome was originally described by a number of different names including the velocardiofacial (VCF) syndrome, DiGeorge syndrome, conotruncal anomaly face (CTAF) syndrome and Shprintzen syndrome. Now that we know that all of these conditions are due to the same chromosome 22 deletion, the preferred name of this syndrome is deletion 22q11 syndrome. |
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| Dentinogenesis imperfecta:
Dentinogenesis imperfecta is a genetic disorder characterized by opalescent, easily fractured teeth. Dentinogenesis imperfecta is distinct from osteogenesis imperfecta and only affects the teeth. |
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| DiGeorge Syndrome:
DiGeorge syndrome is one of a number of names previously used for the chromosome deletion 22q11 syndrome, which is a condition that features cleft palate and congenital heart defects. |
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| Ectodermal Dysplasia Syndromes:
The ectodermal dysplasia syndromes are a group of about 150 heritable disorders that affect the ectoderm, the outer layer of tissue in a developing baby. |
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| Fetal Alcohol Syndrome:
This syndrome is caused by exposure to alcohol during prenatal development. It involves poor growth of the brain and body, certain physical features, and disorders ranging from behavior problems or learning disabilities to mental retardation. |
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| Greig Cephalopolysyndactyly Syndrome:
GCPS is characterized by physical abnormalities affecting the digits and the craniofacial area. Characteristic digital features may include extra fingers and/or toes (polydactyly), webbing and fusion of the fingers and/or toes (syndactyly). |
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| Hemifacial Microsomia (includes Goldenhar Syndrome, Oculo-Auriculo-Vertebral Dysplasia, Facio-Auriculo-Vertebral Dysplasia)
:
This spectrum of conditions generally involve underdevelopment of one side of the face along with variable eye, ear, and vertebral anomalies. |
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| Jackson-Weiss syndrome:
Jackson-Weiss syndrome is a craniosynostosis syndrome characterized by midfacial hypoplasia, craniosynostosis and abnormalities of the feet including: medially deviated, broad great toes; cutaneous syndactyly of second and third toes; short, broad metatarsal and tarsonavicular and calcaneonavicular fusion. |
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| KID syndrome:
KID syndrome is a very rare autosomal dominant genetic disorder with keratitis, ichthyosis and deafness. |
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| Moebius syndrome:
Moebius syndrome consists of a congenital paresis or paralysis of the seventh (facial) cranial nerve, frequently accompanied by dysfunction of other cranial nerves. Infants typically have impaired ability to suck, are unable to follow objects with their eyes, lack facial expression, and have crossed eyes. In addition to cranial nerve dysfunction, orofacial/limb malformations and musculoskeletal defects are often present. Mental retardation may be present in anywhere from 10-50% of individuals with Moebius syndrome. |
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| Noonan Syndrome:
Noonan syndrome is a genetic condition that features short stature, congenital heart defects and characteristic facial features. |
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| Opitz Syndrome:
Opitz syndrome is a genetic birth defect condition characterized by facial abnormalities including hypertelorism, hypospadius and intellectual impairment in some individuals. |
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| OSMED (Otospondylomegaepiphyseal Dysplasia):
OSMED (Otospondylomegaepiphyseal Dysplasia) is a very rare, more severe variant of the Stickler syndrome with most patients showing autosomal recessive inheritance. Only a few families have been described with OSMED. |
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| Pfeiffer Syndrome:
Pfeiffer syndrome involves abnormalities of skull shape, plus broad thumbs and great toes. Three subtypes have been defined, with varying degrees of severity. Classic Type I has the best prognosis and may be inherited through the family. Types II and III have a poorer prognosis, and generally occur sporadically. |
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| Pierre-Robin Sequence:
This condition involves a small, underdeveloped jaw during gestation. The small jaw affects the position of the tongue and interferes with the normal closure of the palate. It may be seen alone or as part of one of several genetic syndromes. |
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| Rieger Syndrome:
Rieger syndrome is characterized by abnormalities of multiple systems, primarily the teeth, eyes, and craniofacial structures. |
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| Saethre-Chotzen Syndrome:
This condition involves an facial differences such as an uneveness or asymmetry of the right and left sides. There may be drooping of one or both eyelids, and the ears may have an unusual shape. The condition may be mild or severe, and can be inherited in families. |
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| Shprintzen-Goldberg Syndrome:
Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis (premature fusion of skull sutures) and marfanoid habitus (features resembling Marfan syndrome). |
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| Stickler Syndrome:
Stickler syndrome is a genetic disorder of collagen, the most abundant connective tissue protein in the body, and is characterized by (1) eye findings including myopia, cataracts and retinal detachment; (2) mixed hearing loss, both conductive and sensorineural; (3) midfacial hypoplasia and cleft palate (especially a Robin-type cleft palate); and (4) a mild spondyloepiphyseal dysplasia with early arthritis. |
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| Treacher Collins Syndrome:
This condition involves downslanting eyes, external ear abnormalities, underdeveloped cheekbones, and small jaw. It may be inherited from one's parents or occur spontaneously in a family. |
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| Van der Woude Syndrome:
Van der Woude syndrome involves clefting of the lip and/or palate along with characteristic pits or depressions of the lower lip. |
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| Velocardiofacial syndrome:
Velocardiofacial syndrome is another name for the deletion 22q11 syndrome which is a common chromosome deletion syndrome combining facial abnormalities and clefting with congenital heart abnormalities. |
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| Waardenburg Syndrome:
This syndrome involves hearing loss, abnormal pigmentation of eyes and/or hair, and typical facial features. Some subtypes of this disorder are associated with the additional features of skeletal or bowel abnormalities. |
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| Williams Syndrome:
Williams syndrome is a genetic condition characterized by distinctive facial features, congenital heart defects, intellectual impairment and an extroverted personality. |
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