Familial clubfoot due to 17q23.1q23.2 microduplication

General Information (adopted from Orphanet):

Synonyms, Signs: Hereditary clubfoot due to 17q23.1-q23.2 microduplication
Number of Symptoms 18
OrphanetNr: 238578
OMIM Id: 613618
ICD-10: Q66.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial clubfoot with or without associated lower limb anomalies
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Partial duplication of the long arm of chromosome 17
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002857) Genu valgum 144 / 7739
2
 (HPO:0002673) Coxa valga 57 / 7739
3
 (HPO:0008807) Acetabular dysplasia 6 / 7739
4
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
5
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
6
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
7
 (HPO:0001792) Small nail 55 / 7739
8
 (HPO:0001800) Hypoplastic toenails Occasional [Orphanet] 74 / 7739
9
 (OMIM) Tufted distal phalanx of the first toe 1 / 7739
10
 (OMIM) Short calcaneus 1 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (OMIM) Lack of normal iliac flare 1 / 7739
13
 (OMIM) Tall, narrow ilia 2 / 7739
14
 (OMIM) Thickened inferior pubic ramus (ischium) 1 / 7739
15
 (OMIM) Hypoplastic distal tibial epiphysis 1 / 7739
16
 (OMIM) Short and thickened first and/or second metatarsal 1 / 7739
17
 (OMIM) Infra-acetabular axe-cut notches 1 / 7739
18
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Alvarado et al. (2010) identified a recurrent chromosome 17q23.1-q23.2 microduplication in 3 of 66 probands with familial idiopathic clubfoot. Mild short stature was common and 1 female had developmental hip dysplasia. Subtle skeletal abnormalities consisted of broad and ...