Scalp defects-postaxial polydactyly syndrome

Scalp defects-postaxial polydactyly syndrome, also known as Adams-Oliver syndrome variant or aplasia cutis congenita with postaxial polydactyly, is an extremely rare congenital disorder characterized by the combination of scalp defects (aplasia cutis congenita) and postaxial polydactyly (extra digits on the outer side of the hands or feet). The scalp defects typically present at birth as areas of absent skin on the vertex of the scalp, which may vary in size and depth, sometimes extending to the underlying bone. Postaxial polydactyly involves the presence of supernumerary digits on the ulnar side of the hand or the fibular side of the foot. These features are apparent at birth, making this a neonatal-onset condition. This syndrome shares clinical overlap with Adams-Oliver syndrome, which classically involves aplasia cutis congenita and terminal transverse limb defects, but the specific combination of scalp defects with postaxial polydactyly distinguishes this entity. Additional features may include other minor anomalies, though the hallmark findings remain the scalp and digit abnormalities. The condition affects primarily the integumentary system (skin of the scalp) and the skeletal/limb system. Treatment is symptomatic and supportive. Small scalp defects may heal spontaneously with conservative wound care, while larger or deeper defects may require surgical intervention such as skin grafting. Postaxial polydactyly can be managed surgically if the extra digits cause functional or cosmetic concerns. Long-term prognosis is generally favorable when complications such as infection or hemorrhage from scalp defects are appropriately managed. Genetic counseling is recommended for affected families.

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