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Holmes-Gang 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:93970
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.0
- OMIM: 309580
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Prevalence is unknown but the syndrome was first described in 1984 in three males from two generations of the same family.
Clinical description
The syndrome is characterised by microcephaly, a large anterior fontanel, a characteristic facies (short nose, anteverted nares, epicanthal folds), club foot deformity and delayed psychomotor development. One of the affected males also had renal hypoplasia/dysplasia. All three patients died during infancy.
Etiology
The syndrome is caused by mutations in the ATRX gene (Xq13.3).
Genetic counseling
Inheritance is X-linked recessive.
Additional information