Cooks syndrome Q87.2

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Anonychia - Onychodystrophy with hypoplasia or absence of distal phalanges

History
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Cooks, 1985

Definition
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The Cooks syndrome, an autosomal dominant malformation syndrome (ORPHA1487) has only been described in about 20 patients.

The nail abnormalities range from onychodystrophy (dystrophic nails) to anonychia (missing nails). At the same time there is brachydactyly (shortening) of the little finger and digitalization (triphalangia) of the thumb. The end phalanges of the fingers and toes are either hypoplastic or missing completely.

Occurrence/Epidemiology
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Prevalence: <1 / 1 000 000

Manifestation
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Newborn time

Literature
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  1. Brennan CB et al (2013) Cooks syndrome: a case report and brief review. Pediatric Dermatol 30:e52-53
  2. Castori M et al (2007) A novel patient with Cook's syndrome supports splitting from "classic" brachydactyly type B. Am J Med Genet A 143A(2):195-199
  3. Chatterjee D (2014) Congenital anonychia and brachydactyly of the left foot - Cookssyndrome variant: Case report and review of literature. Indian J Hum Genet 20: 206-208
  4. Nevin NC et al (1995) Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family. J Med Genet 32: 638-641

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020