Acrocephalopolydactyly

Acrocephalopolydactyly (ACPD) refers to a group of rare congenital malformation syndromes characterized by the combination of acrocephaly (a pointed or tower-shaped skull due to premature fusion of cranial sutures, also known as craniosynostosis) and polydactyly (extra fingers and/or toes). These conditions primarily affect the skeletal system, including the skull, hands, and feet, and may also involve the brain, heart, and other organ systems. Several distinct subtypes have been historically described, including Carpenter syndrome (acrocephalopolydactyly type II), Sakati-Nyhan-Tisdale syndrome (acrocephalopolydactyly type III), and Goodman syndrome (acrocephalopolydactyly type IV). Noack syndrome (acrocephalopolydactyly type I) has been considered by many authorities to overlap with Pfeiffer syndrome. Key clinical features across the acrocephalopolydactyly spectrum include craniosynostosis leading to abnormal head shape, preaxial or postaxial polydactyly, and variable degrees of syndactyly (fusion of fingers or toes). Additional features may include intellectual disability, short stature, congenital heart defects, obesity, and facial dysmorphism such as a flat nasal bridge, low-set ears, and hypertelorism. The severity and specific combination of features vary depending on the subtype and the underlying genetic cause. For example, Carpenter syndrome (the most well-characterized subtype) is caused by mutations in the RAB23 or MEGF8 genes and follows autosomal recessive inheritance. Treatment is multidisciplinary and primarily surgical. Craniosynostosis typically requires neurosurgical intervention to relieve intracranial pressure and allow normal brain growth. Polydactyly and syndactyly may be corrected through orthopedic or plastic surgery. Cardiac defects, when present, may require surgical repair. Developmental support, including speech therapy, occupational therapy, and educational interventions, is important for children with intellectual disability. Long-term follow-up with a team including geneticists, neurosurgeons, cardiologists, and orthopedic specialists is recommended. There is no cure for the underlying genetic condition, and management focuses on addressing individual symptoms and complications.

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