Hallux varus - preaxial polysyndactyly

General Information (adopted from Orphanet):

Synonyms, Signs: Kleiner-Holmes syndrome
Number of Symptoms 9
OrphanetNr: 2110
OMIM Id: 234280
ICD-10: Q74.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
2
 (HPO:0001852) Sandal gap Very frequent [Orphanet] 63 / 7739
3
 (HPO:0010055) Broad hallux 56 / 7739
4
 (HPO:0001159) Syndactyly 140 / 7739
5
 (HPO:0008080) Hallux varus 3 / 7739
6
 (HPO:0001177) Preaxial hand polydactyly 59 / 7739
7
 (OMIM) Preaxial polysyndactyly 2 / 7739
8
 (OMIM) Duplication or triplication of phalanges 1 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kleiner and Holmes (1980) described 2 brothers with bilateral hallux varus. The propositus had clinodactyly of both fifth fingers. Radiographs showed that the first metatarsals and phalanges of both great toes were broad, short, and misshapen. His younger ...