Гіперостоз кортикальний генералізований (Hyperostosis corticalis generalisata)
ORPHA:3416· ICD-10 M85.2· Hyperostosis corticalis generalisata
Визначення(English summary)
Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Adolescent, Childhood