Langer Giedion Syndrome WhoNamedIt

Description: Also known as: Alè-Calò syndrome Klingmüller’s syndrome Description: Syndrome characterized by a combination of mental retardation and a long list of physical abnormalities, including multiple extoses, peculiar facies, and loose redundant skin. Facial features include a bulbous nose with thickened septum and alae, wide prominent philtrum, thin upper lips, and small mandible. During first five years of life recurrent respiratory infections. One of the contiguous gene syndromes. Present from birth. Both sexes affected.