Source:http://linkedlifedata.com/resource/umls/id/C0432233
NCI: A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and elongated philtrum), skeletal abnormalities (cone-shaped epiphyses, hip malformation), short stature, and mild growth retardation.,JABL: Cone-shaped epiphyses, sparse hypopigmented hair, bulbous nose, variable growth retardation, and occasional mental retardation.