{"id":21344,"date":"2025-11-17T01:45:45","date_gmt":"2025-11-16T22:45:45","guid":{"rendered":"https:\/\/hastane.ksu.edu.tr\/hastaliklar\/de-barsy\/"},"modified":"2025-11-17T01:45:45","modified_gmt":"2025-11-16T22:45:45","slug":"de-barsy","status":"publish","type":"hastaliklar","link":"https:\/\/hastane.ksu.edu.tr\/en\/hastaliklar\/de-barsy\/","title":{"rendered":"De Barsy Syndrome"},"content":{"rendered":"<h2>Definition<\/h2>\n<p>De Barsy syndrome is a rare autosomal recessive genetic disease characterized by cutaneous laxity, corneal opacities, progeroid appearance and neurological abnormalities.<\/p>\n<h2>Symptoms<\/h2>\n<ul>\n<li>Cutaneous laxity (loose skin)<\/li>\n<li>Corneal opacities<\/li>\n<li>Progeroid appearance (aged appearance)<\/li>\n<li>Developmental delay<\/li>\n<\/ul>\n<h2>Reasons<\/h2>\n<p>Mutation in the ALDH18A1 or PYCR1 genes.<\/p>\n<h2>Diagnosis<\/h2>\n<p>Clinical findings, genetic testing.<\/p>\n<h2>Treatment<\/h2>\n<p>Symptomatic and supportive treatment.<\/p>\n<h2>Which Polyclinic Should You Apply To?<\/h2>\n<p><strong>Genetics Polyclinic<\/strong> or <strong>Dermatology Polyclinic<\/strong><\/p>\n<h2>What to Do in an Emergency?<\/h2>\n<p>In case of severe feeding difficulties or breathing problems, the emergency room should be consulted.<\/p>\n<p><em>This page is for general information purposes only.<\/em><\/p>","protected":false},"excerpt":{"rendered":"<p>Definition De Barsy syndrome is a rare autosomal recessive genetic disorder characterized by cutaneous laxity, corneal opacities, progeroid appearance, and neurological abnormalities. Symptoms Cutaneous laxity (loose skin) Corneal opacities Progeroid appearance (aged appearance) Developmental delay Causes Mutations in the ALDH18A1 or PYCR1 genes. Diagnosis Clinical findings, genetic testing. Treatment Symptomatic and supportive treatment. Which Clinic to Consult? Genetic [\u2026]<\/p>","protected":false},"author":1,"featured_media":0,"menu_order":0,"template":"","format":"standard","meta":{"_acf_changed":false,"slim_seo":{"title":"Barsy Syndrome - Kahramanmara\u015f S\u00fct\u00e7\u00fc \u0130mam University Health Practice and Research Hospital","description":"Definition: De Barsy syndrome is a rare, autosomal recessive disorder characterized by cutaneous laxity, corneal opacities, progeroid appearance, and neurological abnormalities."},"footnotes":""},"class_list":["post-21344","hastaliklar","type-hastaliklar","status-publish","format-standard","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/hastaliklar\/21344","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/hastaliklar"}],"about":[{"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/types\/hastaliklar"}],"author":[{"embeddable":true,"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/users\/1"}],"version-history":[{"count":0,"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/hastaliklar\/21344\/revisions"}],"wp:attachment":[{"href":"https:\/\/hastane.ksu.edu.tr\/en\/wp-json\/wp\/v2\/media?parent=21344"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}