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Frontonasal dysplasia-alopecia-genital anomalies syndrome

Disease definition

A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.

ORPHA:228390

Classification level: Disorder
  • Synonym(s):
    • ALX4-related FNDAG
    • Craniofrontonasal dysplasia with alopecia and hypogonadism
    • Frontonasal dysplasia type 2
    • Frontonasal dysplasia with alopecia and genital abnomality
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 613451
  • UMLS: -
  • MeSH: -
  • GARD: 12641
  • MedDRA: -

  A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

Additional information

Further information on this disease

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Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.