Multiple epiphyseal dysplasia, Al-Gazali type
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 http://www.orphadata.org. Data version November 2023
Newly diagnosed with
Multiple epiphyseal dysplasia, Al-Gazali type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Clinical Trials
For a list of clinical trials in this disease area, please click here.