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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.
ORPHA:3328Classification level: Disorder
It has been described in 3 sibs (two males and one female).
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.
Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance.