Multiple epiphyseal dysplasia, Al-Gazali type

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Name:
Multiple epiphyseal dysplasia, Al-Gazali type
Description:
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum.
ORPHAcode:
166024
Synonyms:
Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14