Eiken syndrome

Orpha code: 79106OMIM code: 600002

Definicja

A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
79106
Kod OMIM
600002
Kod ICD10
M85.8
Kod ICD11
-

No additional description.

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