Microcephalic Primordial Dwarfism, Toriello Type

Clinical Features

Toriello et al. (1986) described 2 sisters with a syndrome of prenatal-onset growth deficiency, microcephaly and mental retardation apparently different from the Seckel syndrome-like disorders (e.g., 210710, 210720, 210730) and from other previously reported syndromes. Additional features were cataract, enamel hypoplasia, immune deficiency, and a generalized delay of ossification. The parents were not related.

Inheritance

Toriello et al. (1986) proposed autosomal recessive inheritance for this disorder.