SPLIT-HAND/FOOT MALFORMATION 4

General Information (adopted from Orphanet):

Synonyms, Signs: SHFM4
Number of Symptoms 9
OrphanetNr:
OMIM Id: 605289
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001171) Split hand 72 / 7739
2
(HPO:0001964) Aplasia/Hypoplasia of metatarsal bones 10839977 IBIS 5 / 7739
3
(HPO:0001159) Syndactyly 140 / 7739
4
(HPO:0100257) Ectrodactyly 27 / 7739
5
(HPO:0005914) Aplasia/Hypoplasia involving the metacarpal bones 10839977 IBIS 8 / 7739
6
(HPO:0009767) Aplasia/Hypoplasia of the phalanges of the hand 10839977 IBIS 5 / 7739
7
(HPO:0010173) Aplasia/Hypoplasia of the phalanges of the toes 10839977 IBIS 2 / 7739
8
(HPO:0001199) Triphalangeal thumb 56 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 SHFM4 ...
Clinical Description OMIM Spranger and Schapera (1988) described an instructive South African family in which 3 unaffected sibs with normal parents had each produced affected offspring. An offspring of 1 of the unaffected sibs, himself unaffected, produced affected children. Once originated ...
Molecular genetics OMIM In 2 multigenerational families with SHFM in which segregation analysis had excluded linkage to all previously identified autosomal regions, Ianakiev et al. (2000) identified heterozygous missense mutations in the TP63 gene (603273.0005 and 603273.0006, respectively). One of the ...