Keratosis follicularis-dwarfism-cerebral atrophy syndrome

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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://www.orphadata.org. Data version July 2024

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Keratosis follicularis-dwarfism-cerebral atrophy syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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