Keratosis follicularis dwarfism and cerebral atrophy

Alternate names

Dwarfism, cerebral atrophy and generalized keratosis follicularis

Definition

A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.

NIH genetic and rare disease info

NIH info on Keratosis follicularis dwarfism and cerebral atrophy

Keratosis follicularis dwarfism and cerebral atrophy is a rare disease.

Resources

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Keratosis follicularis dwarfism and cerebral atrophy
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