Weill-Marchesani 4 syndrome, recessive

Weill-Marchesani 4 syndrome, recessive is a rare genetic condition with several names including 15q26.3 microdeletion syndrome, WMS4, and Weill-Marchesani-like syndrome. The condition has been linked to genetic changes in the ADAMTS17 gene and is recognized by its designation as a recessive disorder. Some of the alternative names, such as ichthyosis-short stature-brachydactyly-microspherophakia syndrome, provide hints about features that may be present, including skin issues, shorter stature, and differences in the shape of the fingers or eyes. However, detailed published information about this condition is limited at this time.

Detailed information about the symptoms is currently limited for this condition. Some of the synonyms suggest that people with this condition might experience features such as skin changes (ichthyosis), short stature, differences in finger length (brachydactyly), and eye-related findings (microspherophakia).

This condition is caused by changes in the ADAMTS17 gene. It is inherited in a recessive manner, which means that a person may need to receive altered copies of the gene from both parents to develop the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition, but ongoing studies in genetics may provide further insight in the future.