Angel-shaped phalango-epiphyseal dysplasia

Disease Export to PDF
Name:
Angel-shaped phalango-epiphyseal dysplasia
Description:
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.
ORPHAcode:
63442
Synonyms:
ASPED
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14