Gain-of-function mutations in fibroblast growth factor receptor (FGFR) genes are known to cause a range of skeletal disorders ...

Turner syndrome is a rare genetic disorder found in some women and people assigned female at birth. It can cause short stature and a range of health issues including heart defects, learning ...

Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...

Crouzon’s and Apert’s syndromes both occur with a frequency of approximately 15–16 per million births. Apert’s accounts for about 4.5% of all cases of craniosynostosis. The exact incidence of Pfeiffer ...

What is Zollinger-Ellison syndrome? Zollinger-Ellison syndrome (ZES) is a rare digestive disorder. If you have ZES, you likely have 1 or more tumors in the first part of the small intestine, the ...

In 2022, Dion announced that she was diagnosed with stiff person syndrome, a rare neurological disorder that causes muscle spasms and impacts her ability to sing. At the time, Dion canceled all of ...

The craniofacial features associated with sleep-related breathing disorders (SRBD) – craniosynostosis, retrognathia and micrognathia, midface and maxillary hypoplasia – have high heritability and, in ...

Craniosynostosis (CRS) is one of the most common congenital craniofacial anomalies ... The phenotype of CRS is deeply known as an incompletely penetrant phenotype. CRS is also occasional in many ...

Cuboid syndrome is a condition caused by an injury to the joint and ligaments surrounding the cuboid bone. The cuboid bone is one of the seven tarsal bones in the foot. Cuboid syndrome causes pain ...