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 ...

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 ...

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 ...

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.

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 ...

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 ...

Maverick was born with a heart defect and was later diagnosed with Coffin-Siris Syndrome, which is so rare that fewer than 100 cases have surfaced since it was identified in the 1970s. On CNN ...

to those observed in Coffin-Siris syndrome patients. Genetic studies revealed that the patient carried a mutation in the BICRA gene. “With the help of the online gene-matching tool GeneMatcher, the ...

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 ...