hypomandibular faciocranial dysostosis
MeSH: C537154ORPHA: 1790
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 hypomandibular faciocranial dysostosis, sourced from HPO and Orphanet clinical annotations.
Abnormal morphology of female internal genitaliaNarrow mouthCleft palateBifid uvulaTrigonocephalyBrachycephalyLow-set earsChoanal stenosisAnteverted naresDownslanted palpebral fissuresProptosisUpslanted palpebral fissureOptic disc colobomaCraniosynostosisPolyhydramniosAtrial septal defectPatent ductus arteriosusRecurrent respiratory infectionsTracheal stenosisShort noseMaxillozygomatic hypoplasiaAbnormal tracheobronchial morphologyLaryngeal hypoplasiaAplasia/Hypoplasia of the tongueMidface retrusionCognitive impairment
Classification & Codes
MeSH Code
C537154Orphanet Code
ORPHA:1790hypomandibular faciocranial dysostosis
| MeSH | C537154 |
| Orphanet | ORPHA:1790 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO