Armfield X-Linked Mental Retardation Syndrome

Clinical Features

Armfield et al. (1999) reported a family with 6 males with mental retardation in 3 generations, consistent with X-linked inheritance. Other features included short stature (6 of 6), small hands and feet (5 of 5), seizures (6 of 6), cleft palate (2 of 6), and cataracts/glaucoma (3 of 6). Carrier females were unaffected.

Inheritance

In the family described by Armfield et al. (1999), X-linked recessive inheritance was suggested by the presence of mental retardation in males, absence of manifestations in females, and the absence of male-to-male transmission.

Mapping

Linkage studies performed by Armfield et al. (1999) localized this apparently novel syndromic form of X-linked mental retardation to the terminal 8 Mb of Xq28, with a lod score of 2.11 at zero recombination at marker p39.