Coffin-Siris syndrome is a very rare genetic condition that affects multiple body systems. The range of symptoms that characterize it include developmental disability, physical abnormalities of ...

Individuals with Coffin-Siris syndrome typically have distinctive facial features and may experience developmental delays. Other symptoms include feeding difficulties and issues with vision and ...

However, unlike other patients described, she has extreme macrocephaly, obesity with hepatomegaly, PCOS, hyperinsulinism and metabolic syndrome. In conclusion, we suggest that obesity ...

The hope is that by understanding the molecular basis of Coffin-Siris syndrome, scientists will gain a deeper understanding of more common diseases involving intellectual and social impairment.

That’s why she wants to share her story on how she was diagnosed at a young age with a rare genetic disorder called Coffin Siris Syndrome or CSS. Doctors say the characteristics and defects of ...

Graham Baxter, left, and Geneviève Turcotte right, in Montreal, Friday, January 2, 2015, with three-year-old Éloïse, who was born with one of the rarest genetic syndromes known to exist: Coffin ...

She typed “Coffin-Siris syndrome” into Facebook’s search bar, a term that had eluded her since the birth of her daughter nearly eight years ago. Moments earlier, her youngest child ...

New preclinical models demonstrated causality between PAK3 mutations and disorders associated with social deficiencies. ARID1B mutations have been linked to neuroectoderm specification in Coffin-Siris ...

Then, in September 2012, the diagnosis finally came: Coffin-Siris syndrome, a genetic disease so rare that Eloise is the only person in Quebec who has been diagnosed with it. It causes severe ...

Q: What conditions have symptoms similar to DOOR syndrome? A: Coffin-Siris syndrome; Cooks syndrome; fetal alcohol syndrome, Temple-Baraitser syndrome; Zimmermann-Laband syndrome; and deafness and ...

Kelcie’s six-year-old daughter Winnie has the extremely rare condition Coffin-Siris Syndrome, there are currently only 200 known cases in the world. Exasperated by the lengthy wait for a new ...