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Absent tibia - polydactyly - arachnoid cyst

ORPHA3328
Synonym(s) Holmes-Collins syndrome
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Infancy
Neonatal
ICD-10 -
OMIM
UMLS
  • C2931368
MeSH
  • C536918
MedDRA -

Summary

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

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.


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