Split-hand/foot malformation 3

Preferred Label : Split-hand/foot malformation 3;

Symbol : SHFM3;

CISMeF acronym : SHFM3; SHSF3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 10q24 duplication syndrome; Limb deficiencies, distal, with micrognathia; SHSF3;

Description : Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM3 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by duplication of at least 325kb on 10q24;

Prefixed ID : #246560;

Details

Origin ID

246560;

UMLS CUI

C1838652;

Automatic exact mappings (from CISMeF team)
- F-box and WD repeat domain containing 4 [ORDO Gene]
- FBXW4 wt Allele [NCIt concept]
- Isolated split hand-split foot malformation [ORDO Disease]
Currated CISMeF NLP mapping
- Buttiens-Fryns syndrome [ICD-11 More detail]
- Distal limb deficiencies-micrognathia syndrome [ORDO Disease]
- Distal limb deficiency with micrognathia syndrome (disorder) [SNOMED CT concept]
- limb deficiencies, distal, with micrognathia [MeSH concept]
- limb deficiencies, distal, with micrognathia [MeSH Supplementary Concept]
- split hand-foot malformation 3 [DO Concept]
DO Cross reference
- split hand-foot malformation 3 [DO Concept]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- High palate [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Microretrognathia [HPO term]
- Myopia [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Narrow mouth [HPO term]
- Renal hypoplasia [HPO term]
- Ridged nail [HPO term]
- Split hand [HPO term]
ORDO concept(s)
- Distal limb deficiencies-micrognathia syndrome [ORDO Disease]
- Isolated split hand-split foot malformation [ORDO Disease]
See also inter- (CISMeF)
- Split-Hand/Foot Malformation Type 3 [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal limb deficiencies-micrognathia syndrome [ORDO Disease]
- Split-Hand/Foot Malformation Type 3 [NCIt concept]
- limb deficiencies, distal, with micrognathia [MeSH Supplementary Concept]
- limb deficiencies, distal, with micrognathia [MeSH concept]

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