Geleophysic dysplasia.
On the basis of three affected sibs and one isolated case from the literature geleophysic dysplasia is defined as an acrofacial dysplasia with a peculiar, good-natured facial appearance, short hands and feet due to short, plump tubular bones, small stature, and progressive valvular cardiac disease. It seems to be a hereditary disorder of glycoprotein metabolism with autosomal recessive transmission.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism; D004392:Dwarfism / Q000235:genetics* / Q000378:metabolism; D006023:Glycoproteins / Q000378:metabolism; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008099:Liver / Q000648:ultrastructure; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D011859:Radiography
D006023:Glycoproteins