What is neotenic complex syndrome?

Neotenic complex syndrome is a rare genetic disorder characterized by a combination of symptoms that are present at birth or develop shortly thereafter. This condition is also known as facioaudiosymphalangism syndrome. Some of the common features of neotenic complex syndrome include facial abnormalities such as a small chin, small mouth, and widely spaced eyes. Other symptoms may include hearing loss, heart defects, and abnormalities in the hands and feet such as missing or fused fingers or toes.

Neotenic complex syndrome is caused by mutations in the FLNA gene, which is located on the X chromosome. This gene provides instructions for making a protein called filamin A, which plays a role in the development of various tissues and organs in the body. Mutations in the FLNA gene can disrupt the normal development of these structures, leading to the characteristic features of neotenic complex syndrome.

Treatment for neotenic complex syndrome typically involves a multidisciplinary approach, with interventions aimed at managing the specific symptoms and complications associated with the condition. This may include hearing aids for hearing loss, surgical correction of heart defects, and physical therapy for hand and foot abnormalities.

The prognosis for individuals with neotenic complex syndrome varies depending on the severity of the symptoms and the presence of associated complications. With appropriate medical care and support, many individuals with this condition can lead full and productive lives.