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Pierre Robin syndrome-faciodigital anomaly syndrome

Disease definition

This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.

ORPHA:2888

Classification level: Disorder
  • Synonym(s):
    • Chitayat-Meunier-Hodgkinson syndrome
    • Pierre Robin sequence-faciodigital anomaly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 311895
  • UMLS: C2931064
  • MeSH: -
  • GARD: 1274
  • MedDRA: -
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