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Keratosis follicularis-dwarfism-cerebral atrophy syndrome

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Medical condition
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Other namesDwarfism, cerebral atrophy and generalized keratosis follicularis
SpecialtyMedical genetics
Usual onsetBirth
DurationLifelong
Risk factorsX-linked recessive disorders notoriously affect males more than they affect females
Preventionnone
Frequencyonly 6 cases from Mexico have been reported
Deaths-

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.

References

  1. "Keratosis follicularis dwarfism and cerebral atrophy". 16 June 2022.
  2. "Keratosis Follicularis Dwarfism and Cerebral Atrophy". DoveMed. Retrieved 2022-09-25.
  3. 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)
  4. "Keratosis follicularis dwarfism and cerebral atrophy - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-09-25.
  5. "Entry - 308830 - KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY - OMIM". omim.org. Retrieved 2022-09-25.
  6. 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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