GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, type 4

Disease characteristics

Excerpted from the GeneReview: Ehlers-Danlos Syndrome Type IV
Ehlers-Danlos syndrome type IV (EDS type IV) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance (in some individuals); and arterial, intestinal, and/or uterine fragility. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in the majority of adults identified to have EDS type IV. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. Neonates may present with clubfoot and/or congenital dislocation of the hips. In childhood, inguinal hernia, pneumothorax, and recurrent joint subluxation or dislocation can occur. Pregnancy for women with EDS type IV has as much as a 12% risk for death from peripartum arterial rupture or uterine rupture. One-fourth of individuals with EDS type IV who have undergone laboratory testing to confirm their diagnosis have experienced a significant medical problem by age 20 years and more than 80% by age 40 years. The median age of death in this reviewed population was 48 years.

Associated genes

Clinical features

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  • Alopecia
  • Apnea
  • Hematuria
  • Umbilical hernia
  • Hypokalemia
  • Abnormality of the pupil
  • Fragile skin
  • Short stature
  • Thin skin
  • Respiratory insufficiency
  • Epicanthus
  • Talipes equinovarus
  • Molluscoid pseudotumors
  • Premature loss of teeth
  • Aplasia/Hypoplasia of the eyebrow
  • Absent earlobe
  • Microdontia
  • Aplasia/Hypoplasia of the earlobes
  • Premature delivery because of cervical insufficiency or membrane fragility
  • Hypermobility of distal interphalangeal joints
  • Blue sclerae
  • Cognitive impairment
  • Low-set, posteriorly rotated ears
  • Telecanthus
  • Prematurely aged appearance
  • Premature loss of primary teeth
  • Malar flattening
  • Alopecia of scalp
  • Proptosis
  • Dilatation of the ascending aorta
  • Carious teeth
  • Glaucoma
  • Premature birth
  • Gastrointestinal infarctions
  • Bladder diverticulum
  • Inguinal hernia
  • Cryptorchidism
  • Abnormality of the urinary system
  • Uterine prolapse
  • Abnormality of the palate
  • Trismus
  • Gingival overgrowth
  • Gingivitis
  • Thin vermilion border
  • Hypertelorism
  • Narrow nasal bridge
  • Deeply set eye
  • Abnormality of the eyelashes
  • Ptosis
  • Keratoconus
  • Periodontitis
  • Pectus excavatum
  • Sprengel anomaly
  • Cutis laxa
  • Bruising susceptibility
  • Atypical scarring of skin
  • Melanocytic nevus
  • Hypermelanotic macule
  • Acrocyanosis
  • Cigarette-paper scars
  • Flexion contracture
  • Joint dislocation
  • Joint hypermobility
  • Abnormality of the mitral valve
  • Mitral valve prolapse
  • Abnormality of the heart valves
  • Acroosteolysis (feet)
  • Talipes
  • Abnormality of coagulation
  • Migraine
  • Abnormality of the pleura
  • Hemoptysis
  • Spontaneous pneumothorax
  • Abnormality of the intestine
  • Vertigo
  • Aneurysm
  • Cerebral ischemia
  • Aortic dissection
  • Osteoarthritis
  • Osteolysis
  • Abnormality of the hip bone
  • Reduced consciousness/confusion
  • Abnormality of the pulmonary artery
  • Cerebral aneurysm
  • Venous insufficiency
  • Arterial dissection
  • Osteolytic defects of the phalanges of the hand
  • Aplasia/Hypoplasia of the abdominal wall musculature
  • Abnormality of hair texture
  • Abnormal tendon morphology
  • Teleangiectasia of the skin
  • Displacement of the external urethral meatus
  • Cystocele
  • Decreased corneal thickness
  • Uterine rupture
  • Peripheral arteriovenous fistula
  • Renovascular hypertension
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Go to complete MedGen record for Ehlers-Danlos syndrome, type 4

Clinical resources

Practice guidelines

  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • Orphanet, 2013
    Orphanet Emergency Guidelines: Type IV Ehlers-Danlos Syndrome
  • EuroGenetest, 2010
    Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII

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