keratosis follicularis-dwarfism-cerebral atrophy syndrome
MONDO:0010638
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.
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Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Keratosis follicularis-dwarfism-cerebral atrophy syndrome is a rare, presumably X-linked recessive genetic disorder characterized by keratosis follicularis, severe congenital proportionate dwarfism, and brain atrophy. Other less common findings include microcephaly, intellectual disability, alopecia, epilepsy, and inguinal hernias. It has only been described in 6 males from a 2-generation Mexican family.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.