Angel-shaped phalango-epiphyseal dysplasia

Orpha code: 63442OMIM code: 105835

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
ASPED
ASPED
Kod ORPHA
63442
Kod OMIM
105835
Kod ICD10
Q78.8
Kod ICD11
-

No additional description.

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