Loeys-Dietz syndrome 2
ORPHA: 558
Overview
Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR2 gene on chromosome 3p24
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 Loeys-Dietz syndrome 2, sourced from HPO and Orphanet clinical annotations.
Disproportionate tall statureSlender buildPes planusSpontaneous pneumothoraxAortic root aneurysmAortic aneurysmChronic fatigueNarrow faceVisual impairmentMyopiaDental crowdingPectus excavatumEctopia lentisLens subluxationJoint hypermobilityMitral valve prolapseMitral regurgitationAortic regurgitationTricuspid valve prolapseSleep disturbanceAortic dissectionScoliosisHigh, narrow palateProtrusio acetabuliAscending tubular aorta aneurysmArthralgia/arthritisIncreased axial length of the globeSleep apneaAbnormal zygomatic bone morphologyLens luxationDural ectasiaInguinal herniaCleft palateDolichocephalyRetrognathiaMicrognathiaDownslanted palpebral fissuresGlaucomaRetinal detachmentOsteopeniaOsteoporosisHypotoniaCongestive heart failureEmphysemaHemoptysisMeningoceleDilatation of an abdominal arteryKyphosisLimited elbow movementSkeletal muscle atrophySpondylolisthesisMyalgiaCachexiaReduced bone mineral densityMitral valve calcificationVentricular tachycardiaPulmonary artery dilatationAbnormal left ventricular functionArterial dissectionAortic tortuosityAttention deficit hyperactivity disorderHypoplasia of the irisFlat corneaOpen biteInsomniaPectus carinatumStriae distensaeArachnodactyly
Classification & Codes
Orphanet Code
ORPHA:558Loeys-Dietz syndrome 2
| Orphanet | ORPHA:558 |
| Treatments | 0 drug(s) |
| Symptoms on record | 68 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO