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Brachydactyly is a medical term which literally means 'short finger'. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes. Brachydactyly may also be a signal that one is at risk for congenital heart disease due to the association between congenital heart disease and carpenter's syndrome and the link between carpenter's syndrome and brachydactyly.
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes, a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprung's disease. There also exist at least two types that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities.
Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head, small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.
Heart-hand syndromes are a group of rare diseases that manifest with both heart and limb deformities.
Brachydactyly type D, also known as short thumbstub thumb, or clubbed thumb, is a disease clinically recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of affected thumbs is approximately two-thirds the length of full-length thumbs. It is the most common type of brachydactyly, or shortness of digits, affecting approximately 2–3% of the population, and is associated with the HOXD13 gene, located on chromosome 2q31.1.
Thumb stiffness-brachydactyly-intellectual disability syndrome is a very rare genetic disorder which is characterized by thumb ankylosis due to symphalangism, brachydactyly type A, intellectual disabilities, mild facial dysmorphia and variable levels of obesity.
Fibular aplasia-ectrodactyly syndrome is a very rare genetic disorder which is characterized by aplasia/hypoplasia of the fibula, ectrodactyly, and/or brachydactyly/syndactyly. Additional symptoms include shortness of the femur and tibial/knee/hip/ankle defects. This disorder is inherited in an autosomal dominant manner.
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.
Al-Gazali-Donnai-Mueller syndrome, also known as Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features syndrome is a rare and deadly genetic disorder which is characterized by Hirschsprung's disease, nail and distal limb hypoplasia, flat facies, upslanting palpebral fissures, narrow philtrum, high palate, micrognathia and low-set ears. No more new cases have been reported in medical literature since 1988. It is a type of Hirschsprung's syndrome.
Brachydactyly-long thumb syndrome is a very rare genetic disorder which is characterized by symmetric brachydactyly of the fingers accompanied by an abnormally long thumb, hypomobility of the shoulder and metacarpo-phalangeal joints, and heart conduction defects. Small feet and hands, small shoulders accompanied with short clavicles, clinodactyly, pectus excavatum, mild limb shortening, cardiomegaly, and pulmonic stenosis murmur have also been reported. It was first discovered when D W Hollister et al. described 4 affected members belonging to a 3-generation family. No new cases have been reported since 1981. This disorder is inherited in an autosomal dominant manner.
Du Pan syndrome, also known as fibular hypoplasia and complex brachydactyly is an extremely rare genetic disorder which is characterized by hypoplasia, aplasia or dysplasia of the fibula, under-developee/abnormally developed hands and feet and rather complex brachydactyly. Unlike other rare genetic disorders, Du Pan syndrome doesn't affect traits like intellect or the appearance of the head and trunk To this day, 18 cases have been reported in medical literature. This disorder is associated with mutations in the CDCP1 gene, in chromosome 20q11.2. The mode of inheritance varies family from family, but it is most commonly inherited in an autosomal recessive manner, rare cases have families where the mode of inheritance is autosomal dominant.
Heart-hand syndrome, Spanish type, also known as heart-hand syndrome type 3 or III, is a very rare genetic disorder which is characterized by heart, hand, and sometimes feet abnormalities. It is a type of heart-hand syndrome, a class of genetic disorders characterized by cardiac malformations and hand malformations. Only one family with the disorder has been reported in medical literature.
Santos–Mateus–Leal syndrome, also known as Hirschsprung's disease-deafness-polydactyly syndrome is a very rare autosomal recessive limb malformation which is characterized by Hirschsprung's disease, feet and hand polydactyly, unilateral renal agenesis, and congenital hearing loss. Only 2 cases have been described in medical literature.
Dauwerse–Peters syndrome, also known as Short stature, facial dysmorphism, severe brachydactyly and syndactyly, is an extraordinarily rare novel genetic disorder which is characterized by a short height, depressed nasal bridge, flat facies, upward-slanting eyes, mild nostril anteversion, low-set ears, broad nasal root, severe generalized hand brachydactyly and 2nd-3rd toe syndactyly. Additional features include infertility due to azoospermia, radial and ulnar dysplasia, and pedal symphalangism. This disorder is extremely rare, since only 1 case has been reported in medical literature. This condition is caused by a chromosomal translocation.
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly is a very rare autosomal dominant disorder which is characterized by onychodystrophy, anonychia, fifth finger brachydactyly, thumb digitalization, and missing to underdeveloped distal phalanges of the fingers. It has been described in multiple members of a 5-generation English family.
Coloboma of macula-brachydactyly type B syndrome, also known as Sorbsy syndrome is a rare genetic disorder which is characterized by bilateral macular coloboma, nystagmus of the horizontal pendular type, visual impairment, and brachydactyly type B. Additional findings include congenital anonychia, broad/duplication of the thumbs and big toes, syndactyly and camptodactyly. It is inherited in an autosomal dominant manner. It has been described in 9 members of a 4-generation British family.
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.
Heart-hand syndrome, Slovenian type is a rare autosomal dominant genetic disorder belonging to the heart-hand syndromes.
Hall-Riggs syndrome is a rare genetic disorder that causes neurological issues and birth defects. People with Hall-Riggs syndrome usually have skeletal dysplasia, facial deformities, and intellectual disabilities. Only 8 cases from 2 families worldwide have been described in medical literature. It is an autosomal recessive genetic disorder, meaning both parents must carry the gene in order for their offspring to be affected.
References
- ↑ "Hirschsprung disease: MedlinePlus Genetics".
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Hirschsprung disease type D brachydactyly syndrome". www.orpha.net. Retrieved 2022-05-15.
- ↑ "Hirschsprung disease type d brachydactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.
- ↑ "OMIM Entry - 306980 - HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY". omim.org. Retrieved 2022-05-15.
- ↑ Reynolds, J. F.; Barber, J. C.; Alford, B. A.; Chandler, J. G.; Kelly, T. E. (February 1983). "Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations". Pediatrics. 71 (2): 246–249. doi:10.1542/peds.71.2.246. ISSN 0031-4005. PMID 6823428. S2CID 45422912.
- ↑ https://rarediseases.oscar.ncsu.edu/disease/hirschsprung-disease-type-d-brachydactyly-syndrome/about/.
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