Red Flags in Hypermobility Disorders

Clinical features that may point to a genetically-defined type of EDS or another heritable disorder of connective tissue.

Most people with hypermobility have hypermobile EDS (hEDS) or a hypermobility spectrum disorder (HSD). But certain features, the "red flags," can suggest a genetically-defined type of EDS or another heritable disorder of connective tissue (HDCT) that may need specific testing and monitoring.

This table is adapted from Symptomatic.[1] Read the matrix below, or jump to the same data organized by symptom or by condition.

It is a tool for recognizing patterns and preparing for appointments, not a diagnostic checklist. Always discuss your history with a knowledgeable clinician.

Tip: on a narrow screen, scroll the table sideways to see all conditions. Hover a column heading for its full name. A ✓ marks an associated red flag.

Red flag featurecEDSclEDScvEDSvEDSaEDSdEDSkEDSBCSspEDSmcEDSmEDSpEDSMarfanLDSOIStickler
General
Short stature✓✓✓
Sudden, early unexpected death (under age of 40)✓✓
Hernia (umbilical or inguinal)✓✓✓✓✓✓✓
Acrogeria (prematurely aged appearance)✓✓
Developmental delay (motor)✓
Head, ENT, craniofacial
Characteristic facial appearance✓✓✓✓✓✓✓✓✓✓
Epicanthal folds✓
Keratoconus✓✓
Clouded cornea✓
Ocular fragility✓✓
Dislocation of the ocular lens✓
Retinal detachment✓✓
Deafness✓✓✓✓
Cleft palate or bifid uvula✓✓
Gingival recession and gingival fragility✓✓
Severe periodontal disease✓
Dentinogenesis imperfecta (teeth with thin enamel)*✓
Musculoskeletal
Club foot (talipes equinovarus)✓✓✓✓✓
Congenital hip dislocation✓✓
Scoliosis or kyphoscoliosis✓✓✓✓✓✓✓
Muscle hypotonia✓✓✓✓✓
Muscle weakness✓
Hypermobility limited to distal joints✓✓✓
Osteopenia or osteoporosis at a young age✓✓✓
Osteoarthritis at a young age (<40)✓✓✓
Brachydactyly (short fingers and toes)✓
Joint contractures✓✓✓✓✓
Skin
Extremely stretchy skin✓✓✓✓✓✓✓
Extreme fragility✓✓✓
Redundant skin✓
Aged-appearing hands✓
Increased palmar wrinkling (hands)✓✓
Cardiovascular
Severe progressive valvular heart disease✓
Aortic or arterial aneurysms, dissection or rupture✓✓✓✓✓✓
Pulmonary
Pneumothorax✓✓✓
Gastrointestinal
Bowel rupture✓
Colonic diverticula✓
Genitourinary
Uterine rupture✓
Bladder diverticula✓

* Dentinogenesis imperfecta is present in some types of osteogenesis imperfecta only.

Grouped by Symptom

General

  • Short staturedEDS spEDS OI
  • Sudden, early unexpected death (under age of 40)Marfan LDS
  • Hernia (umbilical or inguinal)cEDS cvEDS dEDS kEDS pEDS Marfan LDS
  • Acrogeria (prematurely aged appearance)vEDS pEDS
  • Developmental delay (motor)mEDS

Head, ENT, craniofacial

  • Characteristic facial appearancevEDS dEDS kEDS spEDS mcEDS pEDS Marfan LDS OI Stickler
  • Epicanthal foldscEDS
  • KeratoconusvEDS BCS
  • Clouded corneaspEDS
  • Ocular fragilitykEDS BCS
  • Dislocation of the ocular lensMarfan
  • Retinal detachmentBCS Stickler
  • DeafnesskEDS BCS OI Stickler
  • Cleft palate or bifid uvulaLDS Stickler
  • Gingival recession and gingival fragilityvEDS pEDS
  • Severe periodontal diseasepEDS
  • Dentinogenesis imperfecta (teeth with thin enamel)OI

Musculoskeletal

  • Club foot (talipes equinovarus)vEDS kEDS spEDS mcEDS LDS
  • Congenital hip dislocationvEDS aEDS
  • Scoliosis or kyphoscoliosisaEDS kEDS BCS mcEDS Marfan LDS OI
  • Muscle hypotoniaaEDS kEDS BCS spEDS mEDS
  • Muscle weaknessclEDS
  • Hypermobility limited to distal jointsvEDS BCS mEDS
  • Osteopenia or osteoporosis at a young agekEDS spEDS OI
  • Osteoarthritis at a young age (<40)LDS OI Stickler
  • Brachydactyly (short fingers and toes)clEDS
  • Joint contracturesBCS spEDS mcEDS mEDS LDS

Skin

  • Extremely stretchy skincEDS clEDS aEDS kEDS spEDS mcEDS pEDS
  • Extreme fragilitycEDS dEDS kEDS
  • Redundant skindEDS
  • Aged-appearing handsclEDS
  • Increased palmar wrinkling (hands)dEDS mcEDS

Cardiovascular

  • Severe progressive valvular heart diseasecvEDS
  • Aortic or arterial aneurysms, dissection or rupturevEDS kEDS spEDS Marfan LDS OI

Pulmonary

  • PneumothoraxvEDS mcEDS Marfan

Gastrointestinal

  • Bowel rupturevEDS
  • Colonic diverticulamcEDS

Genitourinary

  • Uterine rupturevEDS
  • Bladder diverticulakEDS
Grouped by Condition

Classical EDS (cEDS)

  • Hernia (umbilical or inguinal)
  • Epicanthal folds
  • Extremely stretchy skin
  • Extreme fragility

Classical-like EDS (clEDS)

  • Muscle weakness
  • Brachydactyly (short fingers and toes)
  • Extremely stretchy skin
  • Aged-appearing hands

Cardiac-valvular EDS (cvEDS)

  • Hernia (umbilical or inguinal)
  • Severe progressive valvular heart disease

Vascular EDS (vEDS)

  • Acrogeria (prematurely aged appearance)
  • Characteristic facial appearance
  • Keratoconus
  • Gingival recession and gingival fragility
  • Club foot (talipes equinovarus)
  • Congenital hip dislocation
  • Hypermobility limited to distal joints
  • Aortic or arterial aneurysms, dissection or rupture
  • Pneumothorax
  • Bowel rupture
  • Uterine rupture

Arthrochalasia EDS (aEDS)

  • Congenital hip dislocation
  • Scoliosis or kyphoscoliosis
  • Muscle hypotonia
  • Extremely stretchy skin

Dermatosparaxis EDS (dEDS)

  • Short stature
  • Hernia (umbilical or inguinal)
  • Characteristic facial appearance
  • Extreme fragility
  • Redundant skin
  • Increased palmar wrinkling (hands)

Kyphoscoliotic EDS (kEDS)

  • Hernia (umbilical or inguinal)
  • Characteristic facial appearance
  • Ocular fragility
  • Deafness
  • Club foot (talipes equinovarus)
  • Scoliosis or kyphoscoliosis
  • Muscle hypotonia
  • Osteopenia or osteoporosis at a young age
  • Extremely stretchy skin
  • Extreme fragility
  • Aortic or arterial aneurysms, dissection or rupture
  • Bladder diverticula

Brittle Cornea Syndrome (BCS)

  • Keratoconus
  • Ocular fragility
  • Retinal detachment
  • Deafness
  • Scoliosis or kyphoscoliosis
  • Muscle hypotonia
  • Hypermobility limited to distal joints
  • Joint contractures

Spondylodysplastic EDS (spEDS)

  • Short stature
  • Characteristic facial appearance
  • Clouded cornea
  • Club foot (talipes equinovarus)
  • Muscle hypotonia
  • Osteopenia or osteoporosis at a young age
  • Joint contractures
  • Extremely stretchy skin
  • Aortic or arterial aneurysms, dissection or rupture

Musculocontractural EDS (mcEDS)

  • Characteristic facial appearance
  • Club foot (talipes equinovarus)
  • Scoliosis or kyphoscoliosis
  • Joint contractures
  • Extremely stretchy skin
  • Increased palmar wrinkling (hands)
  • Pneumothorax
  • Colonic diverticula

Myopathic EDS (mEDS)

  • Developmental delay (motor)
  • Muscle hypotonia
  • Hypermobility limited to distal joints
  • Joint contractures

Periodontal EDS (pEDS)

  • Hernia (umbilical or inguinal)
  • Acrogeria (prematurely aged appearance)
  • Characteristic facial appearance
  • Gingival recession and gingival fragility
  • Severe periodontal disease
  • Extremely stretchy skin

Marfan syndrome (Marfan)

  • Sudden, early unexpected death (under age of 40)
  • Hernia (umbilical or inguinal)
  • Characteristic facial appearance
  • Dislocation of the ocular lens
  • Scoliosis or kyphoscoliosis
  • Aortic or arterial aneurysms, dissection or rupture
  • Pneumothorax

Loeys–Dietz syndrome (LDS)

  • Sudden, early unexpected death (under age of 40)
  • Hernia (umbilical or inguinal)
  • Characteristic facial appearance
  • Cleft palate or bifid uvula
  • Club foot (talipes equinovarus)
  • Scoliosis or kyphoscoliosis
  • Osteoarthritis at a young age (<40)
  • Joint contractures
  • Aortic or arterial aneurysms, dissection or rupture

Osteogenesis imperfecta (OI)

  • Short stature
  • Characteristic facial appearance
  • Deafness
  • Dentinogenesis imperfecta (teeth with thin enamel)
  • Scoliosis or kyphoscoliosis
  • Osteopenia or osteoporosis at a young age
  • Osteoarthritis at a young age (<40)
  • Aortic or arterial aneurysms, dissection or rupture

Stickler syndrome (Stickler)

  • Characteristic facial appearance
  • Retinal detachment
  • Deafness
  • Cleft palate or bifid uvula
  • Osteoarthritis at a young age (<40)

Condition abbreviations

cEDS
Classical EDS
clEDS
Classical-like EDS
cvEDS
Cardiac-valvular EDS
vEDS
Vascular EDS
aEDS
Arthrochalasia EDS
dEDS
Dermatosparaxis EDS
kEDS
Kyphoscoliotic EDS
BCS
Brittle Cornea Syndrome
spEDS
Spondylodysplastic EDS
mcEDS
Musculocontractural EDS
mEDS
Myopathic EDS
pEDS
Periodontal EDS
Marfan
Marfan syndrome
LDS
Loeys–Dietz syndrome
OI
Osteogenesis imperfecta
Stickler
Stickler syndrome

EDS subtypes follow the 2017 International Classification of the Ehlers–Danlos Syndromes. Other HDCTs shown for comparison: Marfan, Loeys–Dietz, osteogenesis imperfecta, and Stickler syndromes.

Source & further reading

The red flags above are combined from Tables 2–4 of the introductory chapter of the Symptomatic handbook:

[1] Francomano CA, Hakim AJ, Henderson LGS and Henderson FC. Introduction: An overview of the Ehlers-Danlos syndromes and hypermobility spectrum disorders. In Francomano CA, Hakim AJ, Henderson GS, Henderson FC, eds. Symptomatic: The symptom-based handbook for Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. Elsevier, Cambridge MA and Amsterdam, Netherlands. 2024.

For the formal subtype definitions, see the 2017 International Classification of the Ehlers–Danlos Syndromes from The Ehlers–Danlos Society.

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