mandibulofacial dysostosis-microcephaly syndrome
MeSH: C537405ORPHA: 79113
Overview
autosomal dominant disease characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia,
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 mandibulofacial dysostosis-microcephaly syndrome, sourced from HPO and Orphanet clinical annotations.
Cleft palateAccessory oral frenulumTrigonocephalyMalar flatteningEpicanthusHypoplasia of the maxillaMicrognathiaAbnormality of the outer earLow-set earsPreauricular skin tagOverfolded helixConductive hearing impairmentAtresia of the external auditory canalTelecanthusUpslanted palpebral fissureDelayed speech and language developmentPreaxial hand polydactylyIntellectual disabilitySeizureAtrial septal defectShort noseShort statureSecondary microcephalyMicrotiaAbnormal middle ear morphologyAbnormal antihelix morphologyLarge earlobeAbsent tragusUnderdeveloped tragusFeeding difficulties
Classification & Codes
MeSH Code
C537405Orphanet Code
ORPHA:79113mandibulofacial dysostosis-microcephaly syndrome
| MeSH | C537405 |
| Orphanet | ORPHA:79113 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO