In October 2020, an 11-year-old girl named Maya received a diagnosis of Nicolaides-Baraitser syndrome (NCBRS), a genetic disorder documented in only 61 cases at that time. The condition is characterized by various symptoms including sparse hair, weak muscle tone, stunted growth, and intellectual disability, though individuals with NCBRS typically display the personality trait that earned the syndrome its nickname: the “beautiful smile syndrome.”
Five years after the initial diagnosis, Maya’s mother decided to investigate the condition more thoroughly, driven by concerns about Maya’s approaching adulthood and recent behavioral changes. With Maya’s enthusiastic consent, the mother-daughter pair embarked on a research project to locate others with the condition and learn more about its progression and prognosis. Their investigation has taken them to multiple locations internationally, including Cyprus, the British countryside, and various sites across the United States in search of Maya’s “genetic family.”
The journey led them to meet Paola Nicolaides, the physician after whom the syndrome is partially named. Nicolaides, who survived a harrowing childhood in Cyprus during a military conflict, later became a pediatric neurologist. While working at Great Ormond Street Children’s Hospital in London in 1992, she and colleague Michael Baraitser encountered a patient with distinctive characteristics that didn’t match any known condition. They published their observations in a 1993 paper, which became the first scientific description of what would become known as Nicolaides-Baraitser syndrome. Nicolaides later returned to Cyprus to practice as one of the island’s few pediatric neurologists.
Currently, approximately 337 cases of NCBRS have been identified worldwide. The investigation reveals how rare genetic conditions are discovered through careful clinical observation and medical literature review, and how families affected by these conditions seek connection and knowledge within their small patient communities. Raoul Hennekam, a Dutch professor of pediatrics and clinical genetics, has been instrumental in continuing work with unusual cases at Great Ormond Street.
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