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Multiple epiphyseal dysplasia, Al-Gazali type

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.3
  • ICD-11: LD24.61
  • OMIM: 607131
  • UMLS: C1846722
  • MeSH: -
  • GARD: -
  • MedDRA: -
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