Split hand - split foot - deafness

General Information (adopted from Orphanet):

Synonyms, Signs: SHFM1D
DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET
Number of Symptoms 18
OrphanetNr: 71271
OMIM Id: 220600
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 22 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
4
 (HPO:0001182) Tapered finger rare [HPO:skoehler] 93 / 7739
5
 (HPO:0100257) Ectrodactyly 27 / 7739
6
 (HPO:0001839) Split foot 28 / 7739
7
 (HPO:0001171) Split hand 72 / 7739
8
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
9
 (HPO:0003510) Severe short stature rare [HPO:skoehler] 90 / 7739
10
 (HPO:0001597) Abnormality of the nail rare [HPO:skoehler] 115 / 7739
11
 (OMIM) Asymmetrical severely deformed feet (in some patients) 1 / 7739
12
 (OMIM) Dorsalization of palms (in some patients) 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Normal lower limbs (in some patients) 1 / 7739
15
 (OMIM) Mild scoliosis 7 / 7739
16
 (OMIM) Cylindrical nails (in some patients) 1 / 7739
17
 (OMIM) Restriction of flexion at all metacarpophalangeal and interphalangeal joints (in some patients) 1 / 7739
18
 (OMIM) Asymmetric short and severely deformed legs (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shamseldin et al. (2012) reported a consanguineous Yemeni family in which 2 daughters had split-hand/foot malformation as well as hearing impairment. The proband was a 6-year-old girl who had severe short stature but normal weight and head circumference, ...
Molecular genetics OMIM In 2 affected sisters from a consanguineous Yemeni family with split-hand/foot malformation and hearing loss, who had no detectable chromosomal aberration, Shamseldin et al. (2012) performed exome sequencing with autozygome overlap and found 6 variants present in the ...