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Frontofacionasal dysplasia

Disease definition

Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).

ORPHA:1791

  • Synonym(s):
    • Gollop syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q75.8
  • OMIM: 229400
  • UMLS: C2931720
  • MeSH: -
  • GARD: 2390
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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