PROTRUSIO ACETABULI

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr:
OMIM Id: 177050
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:0003179) Protrusio acetabuli 37 / 7739
2
(HPO:0003273) Hip contracture 30 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Hip pain and stiffness 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM D'Arcy et al. (1978) studied the family of a girl who between ages 8 and 11 rapidly developed hip pain and stiffness with flexion contractures and protrusio acetabuli. The mother and a brother had limitation of hip motion, ...