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Ankylosing vertebral hyperostosis with tylosis

ORPHA2206
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Adult
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. It has been described in at least eight patients, in four sibships spanning two generations of a Greek-Cypriot family. Six other members of the family presented with palmoplantar hyperkeratosis alone. This syndrome is likely to be transmitted as an autosomal dominant trait. It is distinct from diffuse idiopathic skeletal hyperostosis (DISH) which is not a rare disease.


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