Schmid-Fraccaro syndrome: severe neurologic features

Abstract

Schmid-Fraccaro syndrome is a rare genetic disease, characterized by modifications of chromosome 22 (partial trisomy or tetrasomy), accompanied by eye abnormality (coloboma) and anal atresia. Clinical and phenotypic features are variable, and neurologic disturbance with delays of mental, psychologic, and motor development may be present. Its definitive diagnosis is based on karyotype. We report on a 17-year-old girl with Schmid-Fraccaro syndrome and severe cognitive deficits and motor deficits, who presented at our healthcare unit for a medical consultation. Her physical examination was remarkable for bilateral coloboma of the iris, hypertelorism, bilateral preauricular tags, scoliosis, and cardiac systolic murmur. After her birth, she was evaluated for anal atresia and congenital cardiac disease, which led to a genetic investigation and a diagnosis of Schmid-Fraccaro syndrome. Life expectancy in Schmid-Fraccaro syndrome depends on the number and variety of malformations, but in most cases the prognosis is favorable.