Schaaf-Yang syndrome

Schaaf-Yang syndrome is a rare disorder that has been observed in some people with changes in the MAGEL2 gene. It is sometimes called MAGEL2-related Prader-Willi-like syndrome or Chitayat-Hall syndrome among other names. Because this condition has overlapping features with other syndromes, it is often described with terms that mention joint issues (arthrogryposis), hormone problems like hypopituitarism, differences in facial features, and difficulties with intellectual development. People with this condition may show some of these characteristics to different degrees. The syndrome is named after researchers who have contributed to understanding its genetic basis. While scientific understanding of Schaaf-Yang syndrome is growing, more research is needed to fully explain its complete range of effects.

Common features reported in association with Schaaf-Yang syndrome include joint contractures (arthrogryposis), potential for low levels of certain hormones (hypopituitarism), and intellectual or developmental challenges. Facial anomalies have also been noted in descriptions of this condition. However, the specific symptoms can vary widely among people with Schaaf-Yang syndrome.

Schaaf-Yang syndrome is associated with changes in the MAGEL2 gene. These genetic changes affect how this gene functions and can lead to the characteristic features of the condition. The syndrome has been linked to mutations in MAGEL2 as noted in the literature referenced by its OMIM IDs.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.