Multiple epiphyseal dysplasia, Al-Gazali type

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Synonyms: Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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