What is the definition of Acrocephalopolydactyly?

Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare genetic (autosomal recessive) disorder characterized by excessive birth weight and facial, body, organ, limb, and finger abnormalities. Fewer than twelve cases have been identified.

What are the symptoms for Acrocephalopolydactyly?

Symptoms of acrocephalopolydactyly include excessive birth weight, a swollen, rounded body, fluid in abdomen (acites ); short arms and legs; extra fifth fingers (postaxial polydactyly) or toes; thick skin, facial, eye, and cranial defects; excessive connective tissue; pancreatic or renal fibrosis or abnormally shaped kidney; and underdeveloped intestines. Some individuals with acrocephalopolydactyly may have enlarged organs (hepatosplenomegaly); early closure of cranial sutures; abnormally wide-set eyes; upper-slanted eyes; a flat nose; malformed ears; a pointed, conical head; undescended testes; protruding umbilicus or abdominal wall defect; and cleft palate.

What are the current treatments for Acrocephalopolydactyly?

Treatment for acrocephalopolydactyly involves multidisciplinary specialists and may include surgery to treat associated abnormalities.