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 ...

For Jenny Watson, life has presented no shortage of challenges. The single mother of four is a full-time caregiver to her son ...

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 ...

The team conducted experiments using stem cells derived from patients with Coffin-Siris Syndrome (CSS), a rare genetic disorder caused by insufficient gene function. CSS is characterized by ...

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 ...

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 ...