| umls-concept:C0265275 | skos:definition | JABL: Congenital polychondrodystrophy in which narrow and rigid thoracic cage results in asphyxia, ranging in severity from mild cases with minimal respiratory symptoms to fatal asphyxiation. Skeletal dysplasia is not limited to the thoracic structures and may also involve other organs. The affected infants exhibit short-limb dwarfism, ribs, small thoracic cage, and irregular epiphyses and metaphyses. A variety of other abnormalities may be occur, including intestinal malabsorption, renal and hepatic changes, eye abnormalities, hydrocephalus, and infrequent mental retardation. Some cases exhibit ectodermal dysplasia manifestations, such as sparse hair, faulty dentition, and hypoplastic skin over the hands. The syndrome represents a spectrum of disorders with a wide variability in clinical and radiological manifestations.,NCI: A rare autosomal recessive inherited syndrome characterized by a narrow thorax, micromelia, and respiratory disturbances which may lead to asphyxiation. It may be associated with bilater | lld:umls |
