Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation.
Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, and anomalies of foot structure.
Lyngstadaas syndrome, also known as severe dental aberrations in familial steroid dehydrogenase deficiency, is a rare autosomal recessive liver disease involving an enzyme deficiency and dental anomalies. The disease is named after the Norwegian professor Ståle Petter Lyngstadaas.
7p22.1 microduplication syndrome is a newly discovered genetic disorder which is characterized by cranial and facial dysmorphisms, intellectual disability, and motor-speech delays. It is caused by a duplication of the p22.1 region of chromosome 7.
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is a very rare genetic and congenital disorder which is characterized by blepharophimosis, ptosis, V-esotropia, foot syndactyly, extra-ocular and frontal muscles weakness, low height/short stature, prognathism, and synophrys.
Viljoen Kallis Voges syndrome, also known as microcephaly-brachydactyly-kyphoscoliosis syndrome, is a very rare genetic disorder which is characterized by severe intellectual disabilities, microcephaly, low height, brachydactyly type D, flat occiput, down-slanting palpebral fissures, low-set prominent ears, a broad nose, and kyphoscoliosis.
Saito-Kuba-Tsuruta syndrome, also known as Fibulo-ulnar hypoplasia-renal anomalies syndrome, is a very rare genetic disorder which is characterized by fibulo-ulnar dysplasia associated with renal abnormalities. It is associated with neo-natal respiratory failure soon after birth.
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.
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. 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).
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.
Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature.
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.
Acrocraniofacial dysostosis, also known as Kaplan Plauchu Fitch syndrome is a very rare hereditary disorder which is characterized by cranio-facial dysmorphisms, hearing loss, digital clubbing, and osseous anomalies. Only 2 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.
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.
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.
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.
Conductive deafness-ptosis-skeletal anomalies syndrome, also known as Jackson Barr syndrome is a rare presumably autosomal recessive genetic disorder characterized by conductive hearing loss associated with external auditory canal-middle ear atresia which aggravates during ear infections, ptosis, and skeletal anomalies which consist of clinodactyly of the fifth fingers, radial head dislocation and internal rotation of the hips). Additional findings include thin nose, hair growth delays, and teeth dysplasia. It has been described in two American sisters.
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.
