sclerosteosis
Findings
No curated finding names sclerosteosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017838), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 2-3 finger cutaneous syndactylyHPOHP:0001233
- Very frequent (80% to 99% of cases)
- Abnormal cortical bone morphologyHPOHP:0003103
- Very frequent (80% to 99% of cases)
- Abnormality of the noseHPOHP:0000366
- Very frequent (80% to 99% of cases)
- Craniofacial hyperostosisHPOHP:0004493
- Very frequent (80% to 99% of cases)
- Curved distal phalanges of the handHPOHP:0009838
- Very frequent (80% to 99% of cases)
- Diaphyseal undertubulationHPOHP:0005019
- Very frequent (80% to 99% of cases)
Show the remaining 2
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (2)
Other names
2 names
Resolves to: sclerosteosis
- Also called
- cortical hyperostosis with syndactylycortical hyperostosis-syndactyly syndrome