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Acromelic frontonasal dysplasia

Disease definition

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ORPHA:1827

  • Synonym(s):
    • AFND
    • Acromelic frontonasal dysostosis
    • Toriello syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q75.8
  • OMIM: 603671
  • UMLS: C0796182
  • MeSH: C535657
  • GARD: 5539
  • MedDRA: -

Additional information

Further information on this disease

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