otopalatodigital syndrome type 2
MeSH: C538089ORPHA: 90652
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 otopalatodigital syndrome type 2, sourced from HPO and Orphanet clinical annotations.
Narrow mouthCleft palateLarge fontanellesMalar flatteningHypertelorismProminent supraorbital ridgesBroad foreheadHearing impairmentLow-set earsAbnormal pinna morphologyDownslanted palpebral fissuresAnodontiaOligodontiaNarrow chestPulmonary hypoplasiaSkeletal dysplasiaShort noseDepressed nasal bridgeBowing of the long bonesShort thumbShort halluxHypospadiasHydronephrosisGlossoptosisPierre-Robin sequenceHydrocephalusMicrognathiaAbnormal rib morphologyIntellectual disabilityGlobal developmental delayCerebellar hypoplasiaFailure to thriveOmphaloceleAbnormal heart valve morphologyAbnormal cardiac septum morphologyThickened calvariaHypoplastic frontal sinusesFlared iliac wingFibular aplasiaElbow dislocationShort palmAbnormal vertebral segmentation and fusionAbnormal metacarpal morphologyUreteral obstructionIncreased bone mineral densityCamptodactyly of fingerCataractDevelopmental glaucomaEncephaloceleMyelomeningoceleScoliosisSynostosis of carpal bonesTarsal synostosisCarpal synostosisPreaxial polydactyly
Classification & Codes
MeSH Code
C538089Orphanet Code
ORPHA:90652otopalatodigital syndrome type 2
| MeSH | C538089 |
| Orphanet | ORPHA:90652 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO