Peripheral dysostosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr: 1795
OMIM Id: 170700
ICD-10: Q74.8
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: Acromelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010579) Cone-shaped epiphysis Very frequent [Orphanet] 54 / 7739
2
 (HPO:0009803) Short phalanx of finger 79 / 7739
3
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
4
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
5
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
6
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
7
 (HPO:0008843) Hip osteoarthritis 12 / 7739
8
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
9
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (OMIM) Dysostosis of hand and foot tubular bones 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: