osteopathia striata with cranial sclerosis
MeSH: C536053ORPHA: 2780
Overview
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with osteopathia striata with cranial sclerosis, sourced from HPO and Orphanet clinical annotations.
Abnormal metaphysis morphologyThickened calvariaFacial hyperostosisHigh iliac wingLarge iliac wingIncreased bone mineral densityOsteopetrosisCoarse metaphyseal trabecularizationCleft palateSubmucous cleft hard palateBifid uvulaLarge fontanellesMacrocephalyDelayed cranial suture closureConductive hearing impairmentWide nasal bridgeDelayed eruption of teethFrontal bossingScoliosisHigh, narrow palateFlat occiputProminent foreheadBrachycephalyRetrognathiaEpicanthusMicrognathiaPosteriorly rotated earsLow-set earsCataractIntellectual disabilityGlobal developmental delaySpecific learning disabilityAsymmetry of the thoraxAortic valve stenosisCoarctation of aortaMutismAphasiaCerebral calcificationSpina bifida occultaHyperlordosisSevere short statureEcholaliaFacial palsyFlat face
Classification & Codes
MeSH Code
C536053Orphanet Code
ORPHA:2780osteopathia striata with cranial sclerosis
| MeSH | C536053 |
| Orphanet | ORPHA:2780 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO