Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges

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;

Détails

Origin ID

106995;

UMLS CUI

C1862841;

CISMeF manual mappings
- Cooks syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Anonychia or onychodystrophy – hypoplasia or absence of distal phalanges [ICD-11 More detail]
- Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges [MeSH concept]
- Cooks syndrome [ORDO Disease]
- anonychia-onychodystrophy with hypoplasia or absence of distal phalanges [MeSH Supplementary Concept]
HPO term(s)
- Anonychia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Complete duplication of thumb phalanx [HPO term]
- Downslanted palpebral fissures [HPO term]
- High palate [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nose [HPO term]
- Short 5th finger [HPO term]
- Short philtrum [HPO term]
- Shortening of all distal phalanges of the fingers [HPO term]
- Shortening of all distal phalanges of the toes [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Cooks syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anonychia or onychodystrophy – hypoplasia or absence of distal phalanges [ICD-11 More detail]
- Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges [MeSH concept]
- Cooks syndrome [ORDO Disease]
- Cooks syndrome (disorder) [SNOMED CT concept]
- anonychia-onychodystrophy with hypoplasia or absence of distal phalanges [MeSH Supplementary Concept]

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