TLDR GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
GAPO syndrome is a rare autosomal recessive disorder characterized by growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy, caused by mutations in the anthrax toxin receptor 1 gene. Approximately 60 cases have been reported. This report discusses a 16-year-old male with GAPO syndrome, presenting with missing teeth and seeking dental replacements. Examination revealed alopecia, short stature, blindness, unerupted primary and permanent teeth, and multiple impacted teeth, leading to a diagnosis of GAPO syndrome.
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
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March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
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December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
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September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
The document is a detailed guide on skin conditions and treatments for dermatologists.
