Absent Tibia-Polydactyly-Arachnoid Cyst Syndrome

Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.

Epidemiology

It has been described in 3 sibs (two males and one female).

Clinical description

The syndrome is characterized by absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst.

Genetic counseling

Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance.