Angel-shaped phalango-epiphyseal dysplasia

Orpha code: 63442OMIM code: 105835

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
ASPED
ASPED
ORPHA code
63442
OMIM code
105835
ICD10 code
Q78.8
ICD11 code
-

No additional description.

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