Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have normal intelligence.
Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities. It was first described in 1982 in Scotland's Royal National Larbert Institution by Dr D.A.A. Primrose.
Abruzzo–Erickson syndrome is an extremely rare disorder characterized by deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, radial synostosis, and short stature. It was first characterized by Abruzzo and Erickson in 1977 as a CHARGE like syndrome as variably expressed among a family of two brothers, their mother, and their maternal uncle. Members of this family exhibited many of the CHARGE symptoms, but notably did not have choanal atresia and the brothers experienced typical genital development. Due to the recent discovery of this disorder, its etiology is not fully known but it is understood that it arises from mutations on the TBX22 gene on the X-chromosome. The disorder is inherited in an X-linked recessive manner. There is currently no known cure but its symptoms can be treated.
Hanhart syndrome is a broadly classified medical condition consisting of congenital disorders that cause an undeveloped tongue and malformed extremities and fingers. There exist five types of Hanhart syndrome, with the severity and nature of the condition ranging widely on a case-by-case basis. Hanhart syndrome is classified as a rare disease, with approximately 30 known cases having been reported between 1932 and 1991. Early hypotheses believed that the disorder was caused by genetic conditions, with a more recent hypothesis demonstrating that the disorder may be caused by hemorrhagic lesions during prenatal development. The causal mechanism behind this vascular disruption is still unknown.
Orofaciodigital syndrome 1 (OFD1), also called Papillon-Léage and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.
Microcephalic primordial dwarfism, Montreal type is a rare, multi-systemic genetic disorder that is characterized by cranio-facial dysmorphy, premature hair greying and balding, dry and wrinkled palms, skeletal abnormalities, cryptorchidism, premature dementia and intellectual disabilities of variable severity.
Macdermot-Winter syndrome is a very rare fatal genetic disorder which is characterized by pre-natal developmental delay, cranio-facial dysmorphisms, genitalia hypoplasia and congenital-onset seizures. Its prevalence is less than 1 in a million live births.
Chudley–Mccullough syndrome is a rare genetic disorder which is characterized by bilateral congenital hearing loss associated with brain malformations. It is a type of syndromic deafness.
Aortic arch anomaly - peculiar facies - intellectual disability is a rare, genetic, congenital developmental anomaly which is characterized by heart abnormalities, cranio-facial dysmorphia, and intellectual disabilities. No new cases have been reported since 1968.
Familial osteodysplasia, Anderson type is a rare genetic disorder which is characterized by cranio-facial dysmorphisms and multiple skeletal anomalies. Hyperuricemia, hypertension and high erythrocyte sedimentation rates have also been reported. Approximately 6 cases have been reported in medical literature. This disorder is thought to be inherited in an autosomal recessive manner.
Cataract-ataxia-deafness syndrome is a very rare genetic disorder which is characterized by mild intellectual disabilities, congenital cataracts, progressive hearing loss, ataxia, peripheral neuropathy, and short height. Only two cases have been reported in medical literature.
Absent tibia-polydactyly-arachnoid cyst syndrome, also known as Holmes-Collins syndrome, is a very rare multi-systemic hereditary disorder which is characterized by facial dysmorphisms, pre/post-axial polydactyly, toe syndactyly, missing/underdeveloped tibia bone, and the presence of a retrocerebellar arachnoid cyst. Additional findings include clubbed feet, cleft lip, diaphragm agenesis, and radial and ulnar anomalies.
Acro-oto-radial syndrome, also known as Pseudopapilledema blepharophimosis hand anomalies syndrome is a very rare hereditary disorder which is characterized by pseudopapilledema, hearing loss, cranio-facial dysmorphisms and hand/foot anomalies. Unlike other genetic syndromes, people with this syndrome don't exhibit intellectual disabilities. Only 4 cases have been reported in medical literature.
Blepharophimosis intellectual disability syndromes are a group of rare genetic disorders which are characterized by blepharophimosis, ptosis, and intellectual disabilities. These disorders usually follow either autosomal recessive, autosomal dominant, x-linked recessive, or mitochondrial inheritance patterns.
Tranebjaerg–Svejgaard syndrome, also known as X-linked mental retardation associated with psoriasis is a very rare genetic disorder which is characterized by intellectual disabilities, psychomotor development delays, seizures, psoriasis, and cranio-facial dysmorphisms. It is a type of X-linked syndromic intellectual disability. Only 4 cases have been described in medical literature.
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is a very rare genetic disorder which is characterized by dysplasia of the metaphyses, short-limbed dwarfism, mild intellectual disabilities, and conductive hearing loss-associated otitis media. It has been described in 3 siblings born to consanguineous parents from Sicily, Italy.
Pierre Robin sequence-faciodigital anomaly syndrome, also known as Chitayat Meunier Hodgkinson syndrome, is a very rare genetic disorder which is characterized by the signs typical of Pierre Robin sequence along with facial dysmorphisms and digital anomalies. Intellect is not affected. It is thought to be inherited in an X-linked recessive manner.
CAPOS syndrome is a rare genetic neurological disorder which is characterized by abnormalities of the feet, eyes and brain which affect their normal function. These symptoms occur episodically when a fever-related infection is present within the body. The name is an acronym for "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss".
Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms.
Splenogonadal fusion-limb defects-micrognathia syndrome, also known by its abbreviation, SGFLD syndrome, is a rare genetic disorder characterized by abnormal fusion of the spleen and the gonad alongside limb defects and orofacial anomalies. It is a type of syndromic dysostosis.
