X-linked mandibulofacial dysostosis
MeSH: C537102ORPHA: 1131
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 X-linked mandibulofacial dysostosis, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsHigh palateMicrocephalyTriangular faceMicrognathiaConductive hearing impairmentSensorineural hearing impairmentProtruding earProminent nasal bridgeWebbed neckDownslanted palpebral fissuresShort statureBranchial anomalyHypoplasia of the zygomatic boneCryptorchidismEpicanthusAplasia/Hypoplasia of the eyebrowFacial asymmetryPtosisPectus excavatumAbnormal mitral valve morphologyPulmonic stenosisAbnormality of the pulmonary arteryAsymmetric growth
Classification & Codes
MeSH Code
C537102Orphanet Code
ORPHA:1131X-linked mandibulofacial dysostosis
| MeSH | C537102 |
| Orphanet | ORPHA:1131 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO