Medicine:Hirschsprung's disease-type D brachydactyly syndrome

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Hirschsprung's disease-brachydactyly type D syndrome
Other namesFamilial Hirschsprung's disease and brachydactyly type D
SpecialtyMedical genetics
Symptomshirschsprung's disease and brachydactyly type D
CausesGenetic mutation
Preventionnone
FrequencyHirschsprung's disease: 1 in 5,000 live births.,[1] brachydactyly type D: 3% of the world population

Hirschsprung's disease-type D brachydactyly syndrome is a very rare genetic disorder which is characterized by the partial absence of nerves in the intestines (Hirschsprung's disease) and hypoplasia (or total aplasia) of the thumb's distal phalange (brachydactyly type D).[2][3] It has been described in 4 males from a 2-generation United States family. The inheritance pattern was hypothesized to be either X-linked recessive or autosomal dominant with reduced penetrance.[4][5][6]

References

  1. ↑ "Hirschsprung disease: MedlinePlus Genetics". https://medlineplus.gov/genetics/condition/hirschsprung-disease/#inheritance. 
  2. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Hirschsprung disease type D brachydactyly syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150. 
  3. ↑ "Hirschsprung disease type d brachydactyly - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/2700/hirschsprung-disease-type-d-brachydactyly. 
  4. ↑ "OMIM Entry - 306980 - HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY". https://omim.org/entry/306980#1. 
  5. ↑ 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. https://pubmed.ncbi.nlm.nih.gov/6823428/. 
  6. ↑ "Error: no |title= specified when using {{Cite web}}". https://rarediseases.oscar.ncsu.edu/disease/hirschsprung-disease-type-d-brachydactyly-syndrome/about/. 




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