Split-hand/foot malformation with long bone deficiency 1

Preferred Label : Split-hand/foot malformation with long bone deficiency 1;

Symbol : SHFLD1;

CISMeF acronym : SHFLD; SHFLD1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Cleft hand and absent tibia; Split-hand/foot malformation with long bone deficiency; Tibial aplasia with split-hand/split-foot deformity; Ectrodactyly with aplasia of long bones; Aplasia of tibia with ectrodactyly; SHFLD;

Description : This form of split-hand/foot malformation with long bone deficiency (SHFLD1) maps to chromosome 1q42.2-q43. See also SHFLD2 (610685), which maps to chromosome 6q14.1, and SHFLD3 (612576), which maps to chromosome 17p13.3-p13.1. Split-hand/foot malformation with fibular hypoplasia/aplasia has also been reported, see 113310.;

Inheritance : Autosomal dominant;

Prefixed ID : %119100;

Details

Origin ID

119100;

UMLS CUI

C1861553;

Currated CISMeF NLP mapping
- Split-hand-foot malformation with long bone deficiency [MeSH concept]
- Split-hand-foot malformation with long bone deficiency [MeSH Supplementary Concept]
- Tibial aplasia and ectrodactyly syndrome (disorder) [SNOMED CT concept]
- Tibial aplasia-ectrodactyly syndrome [ORDO Disease]
- split hand foot malformation with long bone deficiency [Disease (Nov.)]
HPO term(s)
- Absent forearm [HPO term]
- Absent tibia [HPO term]
- Aplasia of the 3rd finger [HPO term]
- Aplasia/Hypoplasia of the ulna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cupped ear [HPO term]
- Hand monodactyly [HPO term]
- Patellar aplasia [HPO term]
- Short hallux [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
ORDO concept(s)
- Tibial aplasia-ectrodactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Split-hand-foot malformation with long bone deficiency [MeSH Supplementary Concept]
- Split-hand-foot malformation with long bone deficiency [MeSH concept]
- Tibial aplasia-ectrodactyly syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients