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Osteopathia striata-pigmentary dermopathy-white forelock syndrome

ORPHA:2779· ICD-10 Q77.8

Definition

A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant, X-linked dominant
Age of onset
Neonatal