Search Results "#Syndrome"

Posted by Surbhi on July 28 2026 at 05:24 PM   public
Pierre Robin sequence — the congenital triad of micrognathia, glossoptosis, and airway obstruction often accompanied by cleft palate — presents one of the most immediate life-threatening challeng...
Posted by Surbhi on July 28 2026 at 05:23 PM   public
Phelan-McDermid syndrome — the neurodevelopmental disorder caused by deletion or mutation of the SHANK3 gene on chromosome 22q13.3, characterized by severe intellectual disability, autism spectru...
Posted by Surbhi on July 28 2026 at 05:16 PM   public
Pfeiffer syndrome — the autosomal dominant craniosynostosis disorder caused by mutations in FGFR1 and FGFR2, characterized by bicoronal synostosis, midface hypoplasia, broad thumbs and great toes...
Posted by Surbhi on July 28 2026 at 04:53 PM   public
Schwartz-Jampel syndrome — the rare autosomal recessive disorder characterized by myotonia, skeletal dysplasia, joint contractures, and distinctive facial dysmorphism caused by hypofunctional mut...
Posted by Surbhi on July 28 2026 at 04:52 PM   public
Schnitzler syndrome — the late-onset autoinflammatory disease characterized by chronic urticarial rash, monoclonal IgM gammopathy, intermittent fever, bone pain, and elevated inflammatory markers...