Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia

Preferred Label : Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia is a rare disorder that appears to be inherited in an autosomal dominant fashion with reduced penetrance and variable expression (Evans et al., 2002). A form of fibular hypoplasia/aplasia associated with oligosyndactyly and tibial campomelia has been reported (FATCO syndrome; 246570). Split-hand/foot malformation associated with tibial hypoplasia/aplasia has also been described (see SHFLD1, 119100).;

Inheritance : Autosomal dominant;

Prefixed ID : 113310;

Détails

Origin ID

113310;

UMLS CUI

C1862100;

CISMeF manual mappings
- Aplasia of fibula and ectrodactyly syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Fibular aplasia - ectrodactyly [ICD-11 More detail]
- Fibular aplasia ectrodactyly [MeSH concept]
- Fibular aplasia-ectrodactyly syndrome [ORDO Disease]
- fibular aplasia ectrodactyly [MeSH Supplementary Concept]
HPO term(s)
- Aplasia/Hypoplasia of the fibula [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Fibular aplasia [HPO term]
- Incomplete penetrance [HPO term]
- Short phalanx of finger [HPO term]
- Split foot [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Fibular aplasia-ectrodactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fibular aplasia ectrodactyly [MeSH concept]
- Fibular aplasia-ectrodactyly syndrome [ORDO Disease]
- fibular aplasia ectrodactyly [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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