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]
| Keratosis follicularis-dwarfism-cerebral atrophy syndrome | |
|---|---|
| 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 | - |
References
edit- ^ "Keratosis follicularis dwarfism and cerebral atrophy". 16 June 2022.
- ^ "Keratosis Follicularis Dwarfism and Cerebral Atrophy". DoveMed. Retrieved 2022-09-25.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Keratosis follicularis dwarfism cerebral atrophy syndrome". www.orpha.net. Retrieved 2022-09-25.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Keratosis follicularis dwarfism and cerebral atrophy - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-09-25.
- ^ "Entry - 308830 - KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY - OMIM". omim.org. Retrieved 2022-09-25.
- ^ Cantu, J. M.; Hernandez, A.; Larracilla, J.; Trejo, A.; Macotela-Ruiz, E. (April 1974). "A new X-linked recessive disorder with dwarfism, cerebral atrophy, and generalized keratosis follicularis". The Journal of Pediatrics. 84 (4): 564–567. doi:10.1016/s0022-3476(74)80682-7. ISSN 0022-3476. PMID 4834251.
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