oculoskeletodental syndrome
ORPHA: 557003
Overview
human disease
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 oculoskeletodental syndrome, sourced from HPO and Orphanet clinical annotations.
Short statureAbnormality of mucopolysaccharide metabolismNeurodevelopmental delayRetrognathiaEpicanthusConductive hearing impairmentSensorineural hearing impairmentWide nasal bridgeOligodontiaMicrodontiaMutismScoliosisDelayed skeletal maturationHypocalcemiaThoracic kyphosisHypoplasia of the capital femoral epiphysisHyperlordosisDepressed nasal bridgeEnamel hypoplasiaDysplastic corpus callosumFocal white matter lesionsShort 5th fingerThick nasal alaeAbnormal thalamus morphologyBroad columellaClinodactylyMetaphyseal dysplasiaNephrocalcinosisAbnormality of the dentitionCoarse facial featuresHearing impairmentGlaucomaDevelopmental cataractAbnormality of the frontal hairlineStrokeSpecific learning disabilityAbnormal facial shapeHypercalcemia
Classification & Codes
Orphanet Code
ORPHA:557003oculoskeletodental syndrome
| Orphanet | ORPHA:557003 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO