| umls-concept:C0023003 | skos:definition | MSH: Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).,NCI: A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and large ears), multiple exostoses, redundant skin, and mental retardation.,JABL: Multiple exostoses with cone-shaped epiphyses, peculiar facies (mainly microcephaly, bulbous nose with thick septum and alae, and sparse hair), loose redundant skin, and mental retardation. | lld:umls |
