Keratosis follicularis-dwarfism-cerebral atrophy syndrome

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Keratosis follicularis-dwarfism-cerebral atrophy syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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