SPLIT-HAND/FOOT MALFORMATION 1

General Information (adopted from Orphanet):

Synonyms, Signs: SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS
ECTRODACTYLY
SPLIT-HAND DEFORMITY
SPLIT-HAND/FOOT DEFORMITY 1
SHSF1
ECD
SHFM1
SHFD1
Number of Symptoms 6
OrphanetNr:
OMIM Id: 183600
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:0100257) Ectrodactyly 27 / 7739
2
(HPO:0001171) Split hand 72 / 7739
3
(HPO:0001839) Split foot 28 / 7739
4
(HPO:0004058) Hand monodactyly 8 / 7739
5
(HPO:0200054) Foot monodactyly 6 / 7739
6
(OMIM) Lobster claw deformity 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Split-hand/split-foot malformation (SHFM) 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 ...
Clinical Description OMIM The term ectrodactyly is derived from Greek ektroma (abortion) and daktylos (finger). It is a nonspecific term applied to a variety of malformations and is probably best reserved for transverse terminal aphalangia, adactylia, or acheiria. Cases defined in ...
Molecular genetics OMIM Roberts and Tabin (1994) reviewed the events of early limb development, which are similar for all tetrapods in that they define patterning in both the proximal/distal, i.e., humerus to digits, and the anterior/posterior, i.e., first to fifth digits, ...
Population genetics OMIM Birch-Jensen (1949) estimated the frequency of split-hand/foot at birth to be about 1 in 90,000 in Denmark.