Fryns-Smeets-Thiry syndrome

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (including high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further descriptions in the literature since 1994.