Orphanet: Frank Ter Haar syndrome
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Frank-Ter Haar syndrome

Disease definition

A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

ORPHA:137834

Classification level: Disorder
  • Synonym(s):
    • Ter Haar syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 249420
  • UMLS: C1855305
  • MeSH: -
  • GARD: 5138
  • MedDRA: -
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