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

Clinical trials or compassionate use may be available — consult a specialist.

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

C536053

Orphanet Code

ORPHA:2780
osteopathia striata with cranial sclerosis
MeSHC536053
OrphanetORPHA:2780
Treatments0 drug(s)
Symptoms on record44 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO