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Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Medical condition / From Wikipedia, the free encyclopedia
Keratosis follicularis-dwarfism-cerebral atrophy syndrome is a rare, presumably X-linked recessive[2] genetic disorder characterized by keratosis follicularis, severe congenital proportionate dwarfism, and brain atrophy.[3] Other less common findings include microcephaly, intellectual disability, alopecia, epilepsy, and inguinal hernias.[4] It has only been described in 6 males from a 2-generation Mexican family.[5][6]
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Quick Facts Other names, Specialty ...
Keratosis follicularis-dwarfism-cerebral atrophy syndrome | |
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Other names | Dwarfism, cerebral atrophy and generalized keratosis follicularis[1] |
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Specialty | Medical genetics |
Usual onset | Birth |
Duration | Lifelong |
Risk factors | X-linked recessive disorders notoriously affect males more than they affect females |
Prevention | none |
Frequency | only 6 cases from Mexico have been reported |
Deaths | - |
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