cleidocranial dysplasia
MeSH: D002973ORPHA: 1452
Overview
osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull
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 cleidocranial dysplasia, sourced from HPO and Orphanet clinical annotations.
Chronic otitis mediaDelayed eruption of teethAbnormal rib morphologyOsteoporosisBrachydactylyAbnormality of the dentitionLarge fontanellesHypertelorismSloping foreheadMicrognathiaCarious teethAbnormal dental enamel morphologyNarrow chestShort claviclesFrontal bossingRecurrent respiratory infectionsWormian bonesSkeletal dysplasiaHigh, narrow palateShort statureHypoplastic inferior iliaHypoplasia of the zygomatic boneSupernumerary toothDown-sloping shouldersSinusitisMandibular prognathiaHearing abnormalityHearing impairmentSpina bifida occultaDecreased skull ossificationAbnormal sacrum morphologyDepressed nasal bridgeAbnormal metacarpal morphologyDimple chinOpen biteShort faceMidface retrusionGlossoptosisCleft palateBrachycephalyMacrocephalyBroad foreheadHypoplastic scapulaeAbnormal thumb morphologyTapered fingerDystrophic toenailAbnormal pelvic girdle bone morphologyScoliosisRecurrent fracturesCoxa varaGenu valgumClinodactyly of the 5th fingerAbnormal epiphysis morphologyDystrophic fingernailsSleep apnea
Classification & Codes
MeSH Code
D002973Orphanet Code
ORPHA:1452cleidocranial dysplasia
| MeSH | D002973 |
| Orphanet | ORPHA:1452 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO