otospondylomegaepiphyseal dysplasia
ICD-10: Q77.7ORPHA: 94068
Overview
osteochondrodysplasia that results from mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly 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 otospondylomegaepiphyseal dysplasia, sourced from HPO and Orphanet clinical annotations.
Growth delayScoliosisLumbar hyperlordosisDisproportionate short-trunk short statureDysplasia of the femoral headAplasia/hypoplasia involving bones of the extremitiesCoarse facial featuresShort neckPlatyspondylyOsteoporosisKyphosisGenu valgumFlat acetabular roofUpper limb undergrowthFlat faceHip painIncreased head circumferenceAbnormally ossified vertebraeGlossoptosisCleft palateHypertelorismMicrognathiaHearing impairmentRetinal detachmentMyopiaMotor delayBarrel-shaped chestAbnormal foot morphologySpinal cord compressionWaddling gaitAbnormal respiratory system physiologyLimited elbow movementShort long boneShort femurSpinal rigidityBack painReduced bone mineral densityCervical instabilityLaryngotracheomalaciaSmall epiphysesKnee painShort femoral neck
Classification & Codes
ICD-10 Code
Q77.7Orphanet Code
ORPHA:94068otospondylomegaepiphyseal dysplasia
| ICD-10 | Q77.7 |
| Orphanet | ORPHA:94068 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO