Orphanet: Renier Gabreels Jasper syndrome
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Renier-Gabreels-Jasper syndrome

Disease definition

An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).

ORPHA:93975

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 309580
  • UMLS: -
  • MeSH: -
  • GARD: 4672
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown but the syndrome was first described in 1982 in five males from two generations of one family (three brothers and two of their maternal uncles).

Clinical description

The syndrome is characterised by the association of microcephaly, spasticity, epilepsy, deafness and severe intellectual deficit. Female carriers show microcephaly and subnormal intelligence.

Genetic counseling

Transmission is X-linked.

- Last update: May 2008

Additional information

Further information on this disease

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