Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Topic: Medicine
From HandWiki - Reading time: 2 min
| 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 | - |
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]
References
- ↑ "Keratosis follicularis dwarfism and cerebral atrophy". 16 June 2022. https://rarediseases.org/gard-rare-disease/keratosis-follicularis-dwarfism-and-cerebral-atrophy/.
- ↑ "Keratosis Follicularis Dwarfism and Cerebral Atrophy" (in en). http://www.dovemed.com/diseases-conditions/keratosis-follicularis-dwarfism-and-cerebral-atrophy/.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Keratosis follicularis dwarfism cerebral atrophy syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2339&lng=EN.
- ↑ "Keratosis follicularis dwarfism and cerebral atrophy - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-and-cerebral-atrophy.
- ↑ "Entry - 308830 - KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY - OMIM" (in en-us). https://omim.org/entry/308830#1.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/4834251/.
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Licensed under CC BY-SA 3.0 | Source: https://handwiki.org/wiki/Medicine:Keratosis_follicularis-dwarfism-cerebral_atrophy_syndrome1 | ↧ Download this article as ZWI file
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