X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

This condition is an X-linked syndromic disorder that primarily affects intellectual development and physical appearance. People with this condition have a moderate intellectual disability along with unique physical features. The syndrome is noted for a combination of moderate intellectual deficit, marked cubitus valgus (an arm deformity), and unusual facial characteristics such as a short philtrum, deep-set eyes, and downslanting palpebral fissures. In addition to these features, individuals may present with mild microcephaly (a smaller head size) and multiple skin nevi. Only a few cases have been described in the medical literature, and the disorder is believed to follow an X-linked recessive pattern of inheritance.

The common signs include moderate intellectual disability, marked cubitus valgus, and several distinct facial features. These involve mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures, and the presence of multiple skin nevi.

The condition is thought to be caused by an X-linked recessive inheritance pattern, meaning the gene causing the disorder is located on the X chromosome. The gene associated with this condition is CVMRF. This means the disorder is more likely to affect males while females may be carriers.

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.