Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly

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Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
Autosomal dominant - en.svg
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]

Contents

Signs and symptoms

Medical literature

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

  1. ↑ "OMIM Entry - 106990 - ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY". omim.org. Retrieved 2022-06-07.
  2. ↑ "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.
  3. ↑ 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.
  4. ↑ 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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