multiple congenital anomalies-hypotonia-seizures syndrome 3
ORPHA: 369837
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 multiple congenital anomalies-hypotonia-seizures syndrome 3, sourced from HPO and Orphanet clinical annotations.
BrachycephalyNarrow foreheadLong philtrumHigh foreheadStrabismusNystagmusOsteopeniaHypotoniaSlender long boneDepressed nasal bridgeSevere intellectual disabilityAbnormal skeletal morphologyCerebral visual impairmentAbnormality of the urinary systemNephrocalcinosisHearing impairmentWide nasal bridgeHypermetropiaPectus excavatumAbnormal heart morphologyBilateral tonic-clonic seizureGeneralized myoclonic seizureHypercalciuriaScoliosisHigh, narrow palateDownturned corners of mouthDelayed skeletal maturationHypercalcemiaDecreased circulating alkaline phosphatase activityCongenital megaureterUpper limb undergrowthGeneralized tonic seizureAbnormal eye physiologyRenal cystRenal dysplasiaMalar flatteningMicrognathiaLow-set earsAstigmatismMyopiaUpslanted palpebral fissurePrecocious pubertyHypoparathyroidismCerebellar atrophyCraniosynostosisJoint hypermobilityObesityAtrial septal defectPatent ductus arteriosusRestrictive cardiomyopathyGastroesophageal refluxAbnormal lung lobationGeneralized non-motor (absence) seizureHypertriglyceridemiaExaggerated cupid's bowGlobal brain atrophyDecreased circulating IgA concentrationDecreased circulating total IgMObstructive sleep apneaInverted nipplesPremature loss of teethJerky head movementsCentral sleep apneaTented upper lip vermilionMultifocal epileptiform dischargesEEG with spike-wave complexesEEG with generalized sharp slow wavesNasogastric tube feeding in infancyAbnormal gastrointestinal tract morphologyDowngaze palsyPosterior staphyloma
Classification & Codes
Orphanet Code
ORPHA:369837multiple congenital anomalies-hypotonia-seizures syndrome 3
| Orphanet | ORPHA:369837 |
| Treatments | 0 drug(s) |
| Symptoms on record | 71 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO