multiple congenital anomalies-hypotonia-seizures syndrome 1
ORPHA: 280633
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 1, sourced from HPO and Orphanet clinical annotations.
NystagmusSeizureGlobal developmental delaySevere muscular hypotoniaSevere global developmental delayHigh palateCoarse facial featuresStrabismusBrachydactylyTapered fingerHyporeflexiaTremorHoarse cryPatent foramen ovaleShort footGastroesophageal refluxMacrocephaly at birthFeeding difficulties in infancyProminent palatine ridgesProminent superior crus of antihelixDelayed myelinationSmall handHydrocele testisHydroureterHydronephrosisWide mouthNarrow mouthGingival overgrowthThin upper lip vermilionProminent occiputEpicanthusFull cheeksMicroretrognathiaHypertelorismSmooth philtrumSmall foreheadOverfolded helixAnteverted naresShort neckBlepharitisEsotropiaUpslanted palpebral fissureAmblyopiaSynophrysNarrow chestAbnormal posterior cranial fossa morphologyCerebellar atrophyHyperreflexiaAtrial septal defectPatent ductus arteriosusRight ventricular hypertrophyPes cavusHypoplastic fingernailDysphagiaAnal atresiaAnal stenosisHypoplasia of the corpus callosumPulmonary arterial hypertensionRecurrent aspiration pneumoniaVentriculomegalyLarge fleshy earsFair hairAthetosisAortic root aneurysmPartial absence of cerebellar vermisShort noseGeneralized muscle weaknessDeep longitudinal plantar creaseAbnormal renal collecting system morphologyPeripheral pulmonary artery stenosisFlexion contracture of toeProportionate shortening of all digitsElevated circulating alpha-fetoprotein concentrationHyperpigmented/hypopigmented maculesMicrotiaUrinary bladder wall hypertrophyCongenital megaureterUnilateral renal dysplasiaProximal lower limb muscle weaknessThin lower lip vermilionVertical nystagmusTented upper lip vermilionIncreased nuchal translucencyProminent tragusAsymmetric crying faceRectovestibular fistula
Classification & Codes
Orphanet Code
ORPHA:280633multiple congenital anomalies-hypotonia-seizures syndrome 1
| Orphanet | ORPHA:280633 |
| Treatments | 0 drug(s) |
| Symptoms on record | 86 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO