McKusick-Kaufman syndrome

McKusick-Kaufman syndrome is a very rare genetic developmental disorder. It is most often seen in the neonatal period and is characterized by malformations of the genitourinary system and the presence of extra fingers or toes (polydactyly). In some cases, people with this condition may also experience congenital heart disease or gastrointestinal malformations. The disorder is part of a group of conditions that affect early development, and understanding its features can help in managing care and guiding further evaluation.

Common signs of this condition include genitourinary malformations and polydactyly. In some people, there may also be congenital heart disease or gastrointestinal malformations, though these are seen less frequently.

McKusick-Kaufman syndrome is caused by genetic changes. It is linked to alterations in the MKKS gene, which play a role in early human development. Because it is a genetic disorder, it affects developmental processes from a very early age.

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.