PHAVER syndrome
MeSH: C538357ORPHA: 2876
Overview
Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects
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 PHAVER syndrome, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsLow-set earsAbnormal rib morphologyPterygiumIntrauterine growth retardationAbnormal form of the vertebral bodiesButterfly vertebraeUlnar deviation of fingerEpicanthusOverfolded helixConductive hearing impairmentDownslanted palpebral fissuresTriphalangeal thumbJoint stiffnessVentricular septal defectCoarctation of aortaMyelomeningoceleRadioulnar synostosisPulmonary artery atresiaDepressed nasal bridgeShort thumbAplasia/Hypoplasia of the earlobesBroad hallux phalanxBroad thumbHypoplastic aortic archCamptodactyly of finger
Classification & Codes
MeSH Code
C538357Orphanet Code
ORPHA:2876PHAVER syndrome
| MeSH | C538357 |
| Orphanet | ORPHA:2876 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO