Orphanet: Frontonasal dysplasia severe microphthalmia severe facial clefting syndrome

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Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Disease definition

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.


Classification level: Disorder
  • Synonym(s):
    • ALX1-related frontonasal dysplasia
    • Frontonasal dysplasia type 3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.0
  • OMIM: 613456
  • UMLS: -
  • MeSH: -
  • GARD: 12640
  • MedDRA: -
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