neonatal Marfan syndrome
ORPHA: 284979
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 neonatal Marfan syndrome, sourced from HPO and Orphanet clinical annotations.
Mitral regurgitationEmphysemaTricuspid regurgitationDolichocephalyMegalocorneaPectus carinatumCutis laxaEctopia lentisArachnodactylyAdducted thumbMotor delayFlexion contractureSmall for gestational ageAbnormality of the cardiovascular systemMitral valve prolapseTricuspid valve prolapseAbnormal cardiac ventricle morphologyNeonatal respiratory distressAscending tubular aorta aneurysmTalipes calcaneovarusDecreased testicular sizeLong toeHigh myopiaFeeding difficultiesHypoxemiaHeart murmurLipoatrophyEnlarged thoraxIridodonesisLong fingersMicrognathiaLow-set earsWide nasal bridgeDeeply set eyeDownslanted palpebral fissuresBlue scleraeHypotoniaHyporeflexiaJoint hypermobilityAortic root aneurysmHigh, narrow palateCrumpled earIncreased arm span
Classification & Codes
Orphanet Code
ORPHA:284979neonatal Marfan syndrome
| Orphanet | ORPHA:284979 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO