cardiac anomalies-developmental delay-facial dysmorphism syndrome
ORPHA: 369891
Overview
human disease
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 cardiac anomalies-developmental delay-facial dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentGlobal developmental delayMotor delayWide mouthMacroglossiaOpen mouthLow-set earsBulbous noseWide nasal bridgeUpslanted palpebral fissureAtypical behaviorAutistic behaviorHypotoniaSpecific learning disabilityModerate intellectual disabilityPoor speechCryptorchidismHigh palateBrachycephalyEpicanthusLow anterior hairlineMandibular prognathiaRound faceHypertelorismTriangular faceBroad foreheadNarrow foreheadHearing impairmentPreauricular skin tagMacrotiaShort neckPtosisHypermetropiaMyopiaWidely spaced teethRestlessnessAgitationAutismAggressive behaviorHyperactivityAbnormality of the handSyndactylyAtaxiaPlagiocephalyUmbilical herniaAbnormal heart morphologyVentricular septal defectPatent foramen ovaleAbnormal foot morphologyFrontal upsweep of hairIncoordinationSpastic paraparesisEEG abnormalityDownturned corners of mouthShort noseShort statureDepressed nasal bridgeArthrogryposis-like hand anomalyBilateral microphthalmosOcular anterior segment dysgenesisMultifocal epileptiform dischargesHorizontal eyebrowMidface retrusionCamptodactylyClinodactylyOverfriendliness
Classification & Codes
Orphanet Code
ORPHA:369891cardiac anomalies-developmental delay-facial dysmorphism syndrome
| Orphanet | ORPHA:369891 |
| Treatments | 0 drug(s) |
| Symptoms on record | 66 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO