SPLIT-HAND/FOOT MALFORMATION 2

General Information (adopted from Orphanet):

Synonyms, Signs: SPLIT-HAND/FOOT DEFORMITY 2
SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED
SHFM2
SHSF2
SHFD2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 313350
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010049) Short metacarpal 99 / 7739
2
(HPO:0001839) Split foot 28 / 7739
3
(HPO:0006101) Finger syndactyly 198 / 7739
4
(HPO:0001171) Split hand 72 / 7739
5
(HPO:0009803) Short phalanx of finger 79 / 7739
6
(HPO:0001417) X-linked inheritance 173 / 7739
7
(OMIM) Monodactylous lobster-claw anomaly 1 / 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 (Elliott and Evans, 2006). ...
Clinical Description OMIM Ahmad et al. (1987) described a Pakistani kindred in which 36 members in 7 generations had split-hand and split-foot anomaly. The full expression of the trait, monodactylous or split hand and split foot, mainly of the lobster-claw type, ...
Molecular genetics OMIM In the Pakistani kindred with SHFM2, Faiyaz-Ul-Haque et al. (2005) screened the exons and exon/intron boundaries of 19 candidate genes in the Xq26.3 region and did not identify any mutations.