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Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Disease definition

This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

ORPHA:2250

Classification level: Disorder
  • Synonym(s):
    • Bosma arhinia-microphthalmia syndrome
    • Bosma-Henkin-Christiansen syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown or Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.0
  • OMIM: 603457
  • UMLS: C4510568
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been described in two males.

Clinical description

Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata.

- Last update: May 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009) Japanese (2020, pdf)

Detailed information

Disease review articles

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

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.