Mother and daughter seek community for ultra-rare Nicolaides-Baraitser syndrome

In October 2020 a pediatric geneticist diagnosed an 11‑year‑old girl, Maya, with Nicolaides‑Baraitser syndrome, a condition documented in only 61 cases in the scientific literature.

The doctor warned the family about potential cardiac complications and advised extra caution to avoid Covid infection, noting that Maya had not experienced seizures.

Maya exhibits several characteristic features of the syndrome, including sparse hair, a herniated umbilical cord, weak muscle tone, stunted growth, and intellectual disability, yet she is able to speak and walk.

Motivated by the scarcity of known cases, Maya’s mother and daughter embarked on a personal quest to locate other families affected by the disorder, using scientific papers and an online community of children with similar diagnoses.