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angel-shaped phalango-epiphyseal dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.
Mondo Term and Equivalent IDs
MONDO:0007114:  angel-shaped phalango-epiphyseal dysplasia
GARD:0000671: 
MESH:C536361: 
Orphanet:63442: 
SCTID:720984008: