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
Specialty Medical genetics
Symptoms hirschsprung's disease and brachydactyly type D
Causes Genetic 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 American family. The inheritance pattern was hypothesized to be either X-linked recessive or autosomal dominant with reduced penetrance. [4] [5]

References

  1. ↑ "Hirschsprung disease: MedlinePlus Genetics".
  2. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Hirschsprung disease type D brachydactyly syndrome". www.orpha.net. Retrieved 2022-05-15.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. ↑ "Hirschsprung disease type d brachydactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on January 13, 2017. Retrieved 2022-05-15.
  4. ↑ "OMIM Entry - 306980 - HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY". omim.org. Retrieved 2022-05-15.
  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. S2CID   45422912.
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