Acrocephalopolydactyly

Overview

Polydactyly is defined as duplication of a finger or part of it. It occurs as an isolated malformation, in association with other malformations of the hands and/or feet, or as a part of a syndrome. Sporadic as well as familial occurrence have been described. In the latter it is usually inherited as an autosomal dominant trait.

Symptoms

• Mental retardation
• Pointy top of head
• Peculiar facial features
• Syndactyly
• Short middle section of fingers
• Abnormal cortical bone morphology
• Abnormality of the metaphyses
• Hernia of the abdominal wall
• Hyperextensible skin
• Joint hypermobility
• Macrotia
• Recurrent fractures
• Reduced bone mineral density
• Short stature
• Synophrys

Diagnosis

The prenatal diagnosis is suggested by the presence of complex congenital heart disease associated with situs ambiguous

Prognosis

Depends on the severity of the cardiac anomalies, but even with surgical correction or palliation the one-year survival rate is approximately 50%. The association of congenital heart block with polysplenia has a particularly poor prognosis.

Resources

• NIH