Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
| Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly | |
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| Specialty | Medical genetics |
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.[1]
Signs and symptoms
[edit]- Onychodystrophy
- Anonychia
- Fifth finger brachydactyly (Brachydactyly type A3)
- Thumb digitalization
- Hypo/aplasia of the digits' distal phalanges.[2]
Medical literature
[edit]It was first described in a 5-generation family, they had the symptoms mentioned above and metatacarpal and metatarsal underdevelopment. At least two individuals had total absence of the metacarpal bones.[3][4]
References
[edit]- ^ "OMIM Entry - 106990 - ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY". omim.org. Retrieved 2022-06-07.
- ^ "Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-07.
- ^ Kumar, D.; Levick, R. K. (2008-04-23). "Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly". Clinical Genetics. 30 (3): 219–225. doi:10.1111/j.1399-0004.1986.tb00598.x. PMID 3780038. S2CID 36152226.
- ^ Kumar, D.; Levick, R. K. (September 1986). "Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly". Clinical Genetics. 30 (3): 219–225. doi:10.1111/j.1399-0004.1986.tb00598.x. ISSN 0009-9163. PMID 3780038. S2CID 36152226.
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