Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Congenital nervous system disorder · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Syndrome caused by partial chromosomal deletion · Syndromic intellectual disability
3q27.3 microdeletion syndrome
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.
This condition has no sub-types.