aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
MeSH: C537785ORPHA: 1110
Overview
medical condition
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 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsNarrow mouthFacial asymmetryTriangular faceBroad foreheadMacrotiaProminent nasal bridgeConvex nasal ridgeDownslanted palpebral fissuresCarious teethIntellectual disabilityOverriding aortaDownturned corners of mouthAbnormal aortic arch morphologyMicrocephalyArteriovenous malformationMandibular prognathiaAtypical behaviorHypotoniaIntrauterine growth retardationGenu varumAbnormal hip bone morphologyHypoplasia of the zygomatic bone
Classification & Codes
MeSH Code
C537785Orphanet Code
ORPHA:1110aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
| MeSH | C537785 |
| Orphanet | ORPHA:1110 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO