Holmes-Gang Syndrome

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).

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.