imperforate oropharynx-costo vetebral anomalies syndrome
ORPHA: 2759
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 imperforate oropharynx-costo vetebral anomalies syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAbnormality of the mouthAbnormal lip morphologyAbnormality of the philtrumPosteriorly rotated earsLow-set earsAbnormality of the pharynxAbnormal rib morphologyMissing ribsDyspneaRespiratory distressRecurrent respiratory infectionsRespiratory failureHemivertebraeAbnormal form of the vertebral bodiesEpicanthusOverfolded helixWide nasal bridgeChoanal atresiaDownslanted palpebral fissuresArachnodactylyPolyhydramniosPremature birthClinodactyly of the 5th fingerAbnormal antitragus morphologyAplasia/Hypoplasia of the tongueLong palm
Classification & Codes
Orphanet Code
ORPHA:2759imperforate oropharynx-costo vetebral anomalies syndrome
| Orphanet | ORPHA:2759 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO