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Eye defects-arachnodactyly-cardiopathy syndrome

Disease definition

A rare genetic bone development disorder characterized by pre- and postnatal growth retardation, skeletal anomalies such as arachnodactyly and bilateral talipes equinovarus, joint contractures with camptodactyly, dysmorphic facial features (including midface hypoplasia or micrognathia), and abnormalities of the anterior segment of the eye. Skeletal imaging may show diffuse osteopenia and multiple fractures. The syndrome is lethal within the first year of life.

ORPHA:2725

Classification level: Disorder
  • Synonym(s):
    • Al Gazali-Al Talabani syndrome
    • Al Gazali-Lytle syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: -
  • OMIM: 609465
  • UMLS: -
  • MeSH: -
  • GARD: 10054
  • MedDRA: -
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