Tetramelic monodactyly

General Information (adopted from Orphanet):

Synonyms, Signs: Sommer-Hines syndrome
Number of Symptoms 8
OrphanetNr: 2564
OMIM Id: 187510
ICD-10: Q73.8
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: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0004058) Hand monodactyly 8 / 7739
2
 (HPO:0001839) Split foot 28 / 7739
3
 (HPO:0001171) Split hand 72 / 7739
4
 (HPO:0200054) Foot monodactyly 6 / 7739
5
 (HPO:0100257) Ectrodactyly 27 / 7739
6
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (OMIM) Isolated fifth digit of each limb 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: