Eiken syndrome

Orpha code: 79106OMIM code: 600002

Definition

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
Classification

Malformation syndrome

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

No additional description.

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