Orphanet: Absent tibia polydactyly arachnoid cyst syndrome
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Absent tibia-polydactyly-arachnoid cyst syndrome

Disease definition

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

ORPHA:3328

Classification level: Disorder
  • Synonym(s):
    • Holmes-Collins syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 601027
  • UMLS: C2931368
  • MeSH: C536918
  • GARD: 5210
  • MedDRA: -

Summary

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.

- Last update: December 2010

  A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

Additional information

Further information on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.