Cooks syndromeQ87.2
Synonym(s)
Anonychia - Onychodystrophy with hypoplasia or absence of distal phalanges
HistoryThis section has been translated automatically.
Cooks, 1985
DefinitionThis section has been translated automatically.
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/EpidemiologyThis section has been translated automatically.
Prevalence: <1 / 1 000 000
ManifestationThis section has been translated automatically.
Newborn time
LiteratureThis section has been translated automatically.
- Brennan CB et al (2013) Cooks syndrome: a case report and brief review. Pediatric Dermatol 30:e52-53
- 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
- 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
- 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