Jackson–Weiss syndrome (JWS) is a genetic disorder characterized by foot 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. This genetic disorder can also sometimes cause intellectual disability and crossed eyes. It was characterized in 1976.
Congenital contractural arachnodactyly (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. However, Beals and Hecht discovered in 1972 that, unlike Marfan's, CCA is caused by mutations to the fibrillin-2 (FBN2) gene rather than the fibrillin-1 (FBN1) gene.
Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, intellectual disability, and postnatal growth retardation.
Tsukuhara syndrome, also known as Radioulnar synostosis-microcephaly-scoliosis syndrome is an infrequently occurring genetic skeletal dysplasia which is characterized by a combination of radioulnar synostosis, microcephaly, scoliosis, short height, and intellectual disabilities. Only 13 cases worldwide have been described in medical literature.
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.
Kozlowski-Krajewska syndrome, also known as intellectual disability-polydactyly-uncombable hair syndrome is a multi-systemic genetic disorder which is characterized by intellectual disability, abnormalities in the fingers and toes, uncombable hair and facial dysmorphia.
Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common features include coxa vara and retinitis pigmentosa. Only 10 cases of this disorder have been described in medical literature. This disorder is associated with mutations in the RNU4ATAC gene, on chromosome 2q14.2
Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome is an extremely rare multi-systemic genetic disorder which is characterized by congenital ocular, muscular, and heart abnormalities. It was first described in the children of a consanguineous couple, and it is thought to be autosomal recessive disorder with variable expressity. No new cases have been described in medical literature since 1992.
Cleft palate short stature vertebral anomalies, also known as Mathieu-De Broca-Bony syndrome, is a very rare multi-systemic genetic disorder which is characterized by congenital cleft palate, facial dysmorphisms, short stature and neck, vertebral abnormalities and intellectual disabilities. It is thought to be inherited in an autosomal dominant fashion.
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.
Gustavson syndrome, also known as Severe X-linked intellectual disability, Gustavson type, is a rare genetic disorder which is characterized by severe intellectual disabilities, microcephaly, developmental delay, optic atrophy-induced severe vision impairment/loss, severe hearing loss, spasticity, epilepsy, hypomobility of major joints, facial dysmorphisms, and premature death. Some other frequent symptoms include severe postnatal growth retardation, infantile apnea, brain atrophy, dilation of the fourth cerebral ventricle, recurrent upper respiratory tract infections, and a small fontanelle. This disorder was first discovered in 1993, by Gustavson et al., when they described 7 male children from a 2-generation family, these children had the symptoms mentioned above, they came to the conclusion that this case was part of a novel X-linked recessive syndrome. No new cases have been reported since then (1993).
Brachial amelia, cleft lip, and holoprosencephaly, or Yim–Ebbin syndrome, is a very rare multi-systemic genetic disorder which is characterized by brachial amelia cleft lip, and forebrain defects such as holoprosencephaly. Approximately five cases of this disorder have been described in medical literature.
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.
Ulna hypoplasia-intellectual disability syndrome is a very rare genetic disorder which is characterized by shortening of the arms associated with ulnar aplasia/hypoplasia, bilateral clubbed feet, widespread nail aplasia/hypoplasia, and severe psychomotor delays with intellectual disabilities. It has only been described in two siblings born to consanguineous Arab parents. It is thought to be inherited in an autosomal recessive manner.
Brachydactyly-preaxial hallux varus syndrome, also known as 'Christian brachydactyly, is a rare congenital and genetic limb malformation syndrome which is characterized by hallux varus, brachydactyly type D and Morton's toe, alongside the adduction of said digits. Intellectual disabilities have also been reported. 10 cases have been described in medical literature.
Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly. Only 3 families in England and Israel have been described in medical literature.
Severe intellectual disability-progressive spastic diplegia syndrome is a rare novel genetic disorder characterized by severe intellectual disabilities, ataxia, craniofacial dysmorphisms, and muscle spasticity. It is a type of autosomal dominant syndromic intellectual disability.
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome is a rare autosomal dominant genetic disorder characterized by cardiofaciodigital anomalies occurring alongside Pierre Robin sequence. Additional features include abnormal sense of smell, camptodactyly, recurrent joint dislocations, and short stature. Around 6 to 12 cases have been described in medical literature.
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is a rare autosomal recessive syndrome that mainly affects the central nervous system. It causes cardiac defects, brain anomalies, and craniofacial dysmorphisms. It has been reported in a pair of German siblings of the opposite sex born to consanguineous Turkish parents.
Buttien-Fryns syndrome is a congenital genetic disorder that causes severe oligodactyly and micrognathia. It is caused by a change in the structure of the 10q gene. The condition has been reported in four patients, two of which were siblings.
