Angel-shaped phalango-epiphyseal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: ASPED
Number of Symptoms 13
OrphanetNr: 63442
OMIM Id: 105835
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA: 10066017
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 15 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

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:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
2
(HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
3
(HPO:0008843) Hip osteoarthritis 12 / 7739
4
(HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
5
(HPO:0001216) Delayed ossification of carpal bones 30 / 7739
6
(HPO:0001187) Hyperextensibility of the finger joints 12 / 7739
7
(HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
8
(HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
9
(HPO:0003088) Premature osteoarthritis 10 / 7739
10
(HPO:0009193) Pseudoepiphyses of the metacarpals 4 / 7739
11
(HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
12
(HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
13
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bachman and Norman (1967) reported the cases of mother and 2 children with what they referred to as peripheral dysostosis (see 170700). The 47-year-old mother, 61.5 inches tall, had marked hyperextensibility of the fingers and precocious osteoarthritis of ...