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Sclerosteosis

ORPHA3152
Synonym(s) Cortical hyperostosis-syndactyly syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
Childhood
ICD-10
  • M85.2
OMIM
UMLS
  • C0265301
MeSH
  • C537525
MedDRA -

Summary

Disease definition

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.

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Detailed information

Clinical genetics review
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