" /> Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges - CISMeF





Preferred Label : Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Cooks syndrome;

Description : Familial anonychia/onychodystrophy with hypoplasia or absence of distal phalanges (ODP) is a rare disorder characterized by onychodystrophy, anonychia, brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet. Generally the nails of the first to third digits are progressively deformed with total anonychia in the last 2 digits and in all toes (summary by Genzer-Nir et al., 2010). A syndrome has been described in which affected females display juvenile hypertrophy of the breast (JHB; 113670) in association with ODP, whereas males have only ODP (mammary-digital-nail syndrome; 613689).;

Inheritance : Autosomal dominant;

Prefixed ID : %106995;

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02/05/2025


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