Chudley-Lowry-Hoar 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-hypotonic facies).

Epidemiology

Prevalence is unknown but the syndrome was first described in 1988 in three males (a 3-year-old boy and his two maternal uncles) from a family in which two other males had died in infancy/childhood.

Clinical description

All affected males had a characteristic facies (bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia). The surviving patients also had severe intellectual deficit, short stature, mild obesity, hypogonadism, and a low total finger ridge count.

Etiology

The syndrome is caused by missense mutations in the ATRX gene (Xq13.3).

Genetic counseling

Inheritance is X-linked recessive.