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Infantile osteopetrosis with neuroaxonal dysplasia

Disease definition

This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.

ORPHA:85179

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.2
  • ICD-11: LD24.10
  • OMIM: 259720  600329
  • UMLS: C1838258
  • MeSH: -
  • GARD: 10082
  • MedDRA: -

Summary

Epidemiology

It has been described in a brother and a sister born to nonconsanguineous Caucasian parents.

Clinical description

The children died at the ages of 1 and 9 months, respectively. Several additional cases combining axonal dystrophy and osteopetrosis have been described.

Etiology

The etiology remains unclear.

Genetic counseling

Autosomal recessive inheritance has been suggested.

- Last update: March 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Italiano (2009) Nederlands (2009) Português (2009)

Detailed information

General public

Guidelines

Disease review articles

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.