autosomal dominant type IV Ehlers-Danlos syndrome

MeSH: D000094623ORPHA: 286

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

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 autosomal dominant type IV Ehlers-Danlos syndrome, sourced from HPO and Orphanet clinical annotations.

Bladder diverticulumCryptorchidismAbnormal oral frenulum morphologyAbnormality of the faceEpicanthusHypertelorismProtruding earAbnormal eyelash morphologyTelecanthusCarious teethPectus excavatumHypertensionSprengel anomalyAbnormality of the skinThin skinBruising susceptibilityMelanocytic nevusGlobal developmental delayMitral valve prolapseAbnormal heart valve morphologyAbnormal bleedingPneumothoraxVascular dilatationAortic dissectionHypokalemiaShort statureGastrointestinal infarctionsPrematurely aged appearanceAplasia/Hypoplasia of the earlobesDermal translucencyInternal hemorrhageMaculeCognitive impairmentPeripheral arteriovenous fistulaAplasia/Hypoplasia of the eyebrowThin vermilion borderGlaucomaProptosisPremature birthTalipes equinovarusRespiratory insufficiencyVaricose veinsArteriovenous fistulas of celiac and mesenteric vesselsArteriovenous fistulaArterial dissectionFlat faceTelangiectasia of the skinInguinal herniaHypospadiasUterine prolapseNarrow mouthAbnormality of the dentitionAbnormality of the gingivaGingival overgrowthGingivitisNarrow nasal bridgeDeeply set eyePtosisKeratoconusBlue scleraeAbnormal pupil morphologyMicrodontiaPeriodontitisAbnormality of skin pigmentationCigarette-paper scarsJoint dislocationCongenital hip dislocationSubcutaneous noduleUmbilical herniaRedundant skinAlopeciaMigraineHemoptysisAbnormal intestine morphologyVertigoTransient ischemic attackHigh, narrow palateOsteoarthritisOsteolysisReduced consciousnessPulmonary artery aneurysmAortic aneurysmAscending tubular aorta aneurysmPremature loss of primary teethExcessive wrinkled skinHypoplastic lacrimal ductAplasia/Hypoplasia of the abdominal wall musculatureSleep apneaAbnormality of hair textureAbnormal cardiovascular system morphologyArterial stenosisCystoceleUterine ruptureRenovascular hypertensionJoint hypermobility

Classification & Codes

MeSH Code

D000094623

Orphanet Code

ORPHA:286

autosomal dominant type IV Ehlers-Danlos syndrome

MeSH	`D000094623`
Orphanet	`ORPHA:286`
Treatments	0 drug(s)
Symptoms on record	95 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO