/keratosis follicularis-dwarfism-cerebral atrophy syndrome

keratosis follicularis-dwarfism-cerebral atrophy syndrome

Rare Disease

MONDO:0010638

Also Known As

dwarfism, cerebral atrophy and generalised keratosis follicularisdwarfism, cerebral atrophy and generalized keratosis folliculariskeratosis follicularis dwarfism and cerebral atrophykeratosis follicularis, dwarfism, and cerebral atrophy

Definition

A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.