Orphanet: Juberg Hayward syndrome

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Juberg-Hayward syndrome

Disease definition

Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.


Classification level: Disorder
  • Synonym(s):
    • Cleft lip/palate-abnormal thumbs-microcephaly syndrome
    • Orocraniodigital syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.0
  • OMIM: 216100
  • UMLS: C0796099
  • MeSH: C537690
  • GARD: 3060
  • MedDRA: -
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