Silverman-Handmaker type dyssegmental dysplasia

Silverman-Handmaker type dyssegmental dysplasia is a rare, genetic bone disorder that affects growth and bone development. It is a form of neonatal short-limbed dwarfism where the bones, especially the vertebrae, develop abnormally (anisospondyly). Affected individuals often show severe short stature and shortening of the limbs along with a widened end of the long bones (metaphyseal flaring). In addition, people with this condition may have unique facial features such as a flat facial appearance, abnormal ear shape, and a short neck. A narrow chest is also frequently seen. Other skeletal abnormalities may include joint contractures, bowed limbs, and clubfoot (talipes equinovarus). Some may also have differences in their heart and urinary system, adding to the complexity of this condition.

Common features of this condition include severe short stature, shortened limbs, and irregularly formed vertebrae (anisospondyly). People may also have a flat facial appearance, abnormal ears, and a short neck. Additional symptoms can include joint contractures, bowed limbs, clubfoot, and in some cases, heart and urogenital abnormalities.

Silverman-Handmaker type dyssegmental dysplasia is a genetic condition. It is considered a primary bone dysplasia, meaning the bones do not form properly from early stages of development. A variant in the HSPG2 gene has been associated with this disorder.

Information about treatment is currently limited for this condition.

This condition is described as a lethal form of neonatal short-limbed dwarfism. The term 'lethal' indicates that many affected individuals may not survive beyond the neonatal period. Information about long-term quality of life for people with this condition is currently limited.

Information about research is currently limited for this condition.