acrocephalopolydactyly

Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare and severe disorder that is inherited in an autosomal recessive manner. It presents at birth with a number of unique physical features including an unusually high birth weight, a swollen globular body, and generalized edema. This condition is characterized by several bodily abnormalities that affect many parts of the body.

People with this condition may show a range of symptoms such as massive birth weight, a swollen globular body, and generalized edema. They may also have short limbs, extra digits (postaxial polydactyly), and thick skin. Facial features commonly include slanted eye openings, wide-set eyes, epicanthic folds, and abnormal ears. Other signs include excessive connective tissue, kidney irregularities, and, in some cases, enlarged internal organs, early fusion of skull bones (craniosynostosis) leading to an abnormally shaped head, omphalocele, cleft palate, and undescended testes.

Acrocephalopolydactyly is inherited in an autosomal recessive pattern, meaning that a child must receive a variant of the responsible gene from both parents to develop the condition. Although the disorder is genetically inherited, no specific gene has been identified as the cause.

Information about treatment is currently limited for this condition.

This condition is considered lethal, and affected individuals often experience severe complications. The rarity and breadth of the symptoms contribute to a very serious outlook.

Research on acrocephalopolydactyly is very limited due to its extreme rarity, with fewer than 10 cases reported so far. Further studies and clinical research are needed to better understand and manage this condition.