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Multiple epiphyseal dysplasia, Al-Gazali type
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.
ORPHA:166024Classification level: Disorder
A summary on this disease is available in Deutsch (2011) Italiano (2011) Español (2020) Français (2020) Nederlands (2020)
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