Keratosis follicularis dwarfism and cerebral atrophy

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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

Keratosis follicularis dwarfism and cerebral atrophy is a rare disease.

Rare and genetic diseases

Rare diseases - Keratosis follicularis dwarfism and cerebral atrophy

A-Z list of rare diseases
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Keratosis follicularis dwarfism and cerebral atrophy

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