Acrocephalosyndactyly

Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull (craniosynostosis) and hands and feet (syndactyly).^[1] Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development. Cranial sutures allow the skull bones to continue growing until they fuse at age 24. Premature fusing of the cranial sutures can result in alterations to the skull shape and interfere with brain growth.^[2][3] Syndactyly occurs when digits of the hands or feet are fused together.^[4] When polydactyly is also present, the classification is acrocephalopolysyndactyly.^[5] Polydactyly occurs when the hands or feet possess additional digits.^[6] Acrocephalosyndactyly is usually diagnosed after birth, although prenatal diagnosis is sometimes possible if the genetic variation is present in family members, as the conditions are typically inherited in an autosomal dominant pattern^[1] Treatment often involves surgery in early childhood to correct for craniosynostosis^[7] and syndactyly.^[8]

The severity of symptoms for acrocephalosyndactyly varies significantly by subtype and treatment in the early stages of life.