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Björnstad syndrome

Disease definition

Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.

ORPHA:123

Classification level: Disorder
  • Synonym(s):
    • Deafness-pili torti-hypogonadism syndrome
    • Hearing loss-pili torti-hypogonadism syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E88.8
  • ICD-11: EC21.1
  • OMIM: 262000
  • UMLS: C0266006
  • MeSH: C537633
  • GARD: 22
  • MedDRA: -

Summary

Epidemiology

Less than fifty cases have been reported so far.

Clinical description

The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life.

Etiology

Björnstad syndrome is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome (see this term).

Genetic counseling

Björnstad syndrome is transmitted as an autosomal recessive condition.

Expert reviewer(s):  Dr Pascal REYGAGNE - Last update: September 2007

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

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.