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Склеростеоз

ORPHA:3152· ICD-10 M85.2· Sclerosteosis

Визначення(English summary)

Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Childhood, Neonatal