Tibia absent polydactyly arachnoid cyst
Alternate names
Tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies; Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies; Holmes Collins syndrome
Definition
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).
Inheritance
Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance.
Signs and symptoms
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.
Diagnosis
Treatment
NIH genetic and rare disease info
Tibia absent polydactyly arachnoid cyst is a rare disease.
Resources
Frequently asked questions
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