Sclerosteosis

Orpha code: 3152OMIM code: 614305

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.

Disease data
Classification

Malformation syndrome

Synonyms
Cortical hyperostosis-syndactyly syndrome
Hiperostoza korowa - syndaktylia
ORPHA code
3152
OMIM code
614305
ICD10 code
M85.2
ICD11 code
LD24.1Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl