Symptoms of hEDS

Individuals with hypermobile Ehlers-Danlos syndrome (hEDS), the most common form of EDS, commonly experience a broad range of symptoms. The symptom profile reflects connective tissue fragility affecting multiple organ systems, including joints, skin, autonomic function, gastrointestinal tract, neuropsychiatric health, and more.

All symptoms listed here are supported by peer-reviewed research, systematic reviews, or consensus guidelines, except where specifically noted. The noted features are primarily described in patient reports, small case series, or expert opinion and remain under investigation.

The symptoms described are primarily understood to be caused by hEDS itself, except where noted as comorbidities. Some comorbid conditions are still under investigation and may overlap with the underlying biology of hEDS, but current evidence suggests they are distinct conditions that occur more frequently in this population.

Not everyone who has hEDS will experience all of the following symptoms.

Joint Hypermobility and Instability

• Generalized joint hypermobility

• Frequent joint instability with recurrent subluxations (partial dislocations) and dislocations

• Chronic musculoskeletal pain, often neuropathic

• Early-onset osteoarthritis and joint stiffness

• Structural abnormalities such as flat feet

• Marfanoid body habitus, a tall, slender build with long limbs and fingers

• Torus palatinus and mandibular tori, bony growths on the palate or inside the jaw (primarily described in case reports and small patient series)

• Muscle weakness and hypotonia, or low muscle tone

• Motor coordination difficulties (widely reported in surveys but limited high-quality empirical studies)

Proprioceptive and Coordination Issues

• Impaired proprioception, or difficulty sensing body position

• Fine motor skill difficulty, frequent bumping into objects, poor coordination (primarily patient-reported)

• Vestibular dysfunction, involving balance and motion sensitivity (frequently described in surveys; large studies are limited)

• Dystonia, a neurological condition that causes involuntary muscle contractions, unusual postures, or tremors (reported in case reports; prevalence uncertain)

Skin Features

• Soft, velvety, hyperextensible skin

• Easy bruising and fragile skin that heals slowly

• Atrophic scars, which are thin and papery

• Increased nail fragility (commonly reported by patients; limited empirical research)

• Vascular fragility, or delicate blood vessels leading to deep bruising and visible veins

Autonomic and Cardiovascular Symptoms

• Dysautonomia, especially Postural Orthostatic Tachycardia Syndrome (POTS) (comorbidity)

• Palpitations, presyncope, and syncope (comorbidity)

• Exercise intolerance (comorbidity)

• Dizziness, lightheadedness, fatigue

• Fainting or near-fainting when upright

• Mitral valve prolapse or mild aortic root dilation

• Mast cell activation symptoms such as flushing, pruritus or itching, urticaria (hives), food or medication sensitivity, and anaphylaxis (comorbidity)

• Raynaud phenomenon, when fingers or toes turn white, blue, or red in response to cold or stress

• Acrocyanosis, a persistent bluish discoloration of hands or feet due to poor blood flow

• Abnormal sweating and difficulty regulating body temperature, including heat intolerance (comorbidity)

Gastrointestinal and Pelvic Organ Issues

• Irritable Bowel Syndrome, gastroparesis, Small Intestinal Bacterial Overgrowth, and gastroesophageal reflux disease (comorbidity)

• Severe dysmotility, or abnormal gut movement

• Abdominal hernias and pelvic organ prolapse

• Urogynecologic symptoms including menstrual cramps, urinary incontinence, urgency, and incomplete emptying

• Interstitial cystitis, a painful bladder condition not caused by infection

• Early satiety, or feeling full after eating only a small amount of food (comorbidity)

• Bloating and alternating constipation and diarrhea (comorbidity)

• Rectal mucus, rectocele (bulging of the rectum into the vagina due to weak connective tissue), rectal prolapse (when the rectum slips outside the body), and hemorrhoids

• Eosinophilic esophagitis, an inflammatory condition of the esophagus often associated with food sensitivities or allergies (comorbidity)

• Sexual dysfunction, including dyspareunia or pain with intercourse

Neuropsychiatric and Systemic Symptoms

• Anxiety and depression (comorbidity)

• Panic attacks (comorbidity)

• Chronic fatigue

• Brain fog, including difficulty concentrating, short-term memory lapses, and slowed mental processing (comorbidity)

• Sleep disturbances including insomnia (comorbidity), non-restorative sleep, and sleep apnea

• Migraines and cervicogenic headaches

• Post-exertional malaise, or worsening after activity

• Autism spectrum disorder and attention-deficit/hyperactivity disorder (comorbidity; prevalence higher but causality debated)

• Low self-confidence, hopelessness, and desperation (primarily described in qualitative studies and patient surveys)

Sensory and Environmental Sensitivities

• Heightened sensitivity to light, sound, smell, temperature, and touch

• Discomfort from clothing tags, noise, or temperature shifts (primarily patient-reported)

• Chemical sensitivities (often overlapping with mast cell activation; comorbidity)

Dental and Craniofacial Symptoms

• Dental crowding, palate abnormalities, and orthodontic issues

• Temporomandibular joint dysfunction, including jaw clicking, locking, or pain

• Dental enamel defects

Respiratory and Neurological Findings

• Asthma-like symptoms and chronic nasal congestion (comorbidity)

• Chiari malformation, where brain tissue extends into the spinal canal (described in case reports; debated as a direct hEDS feature)

• Spontaneous pneumothorax, or lung collapse

• Craniocervical instability, tethered cord syndrome, and Tarlov cysts (reported in case series and expert opinion; prevalence uncertain)

• Laryngeal disorders, or conditions affecting the voice box (described in GeneReviews and patient surveys; empirical data limited)

• Small fiber neuropathy, damage to small sensory nerves causing pain, numbness, and autonomic dysfunction

Immune, Hormonal, and Endocrine Irregularities

• Immune dysregulation, including frequent infections or allergy-like symptoms

• Mast cell activation syndrome (comorbidity; described in patient reports and retrospective studies)

• Hormonal irregularities including menstrual disturbances, thyroid dysfunction, and cortisol-like symptoms

• Blood sugar instability despite normal diabetes screening (primarily patient-reported)

• Primary immune deficiencies such as low immunoglobulin or complement levels (association with hEDS under investigation; comorbidity)

Functional Impacts and Quality of Life

• Reduced stamina, exercise intolerance, and chronic fatigue

• Need for pacing, mobility aids, braces, and ergonomic tools

• Disability affecting work, study, or social activities

• Misattribution to anxiety or deconditioning, leading to delayed diagnosis

• Mobility disability including falls, walking difficulties, and need for aids

• Widespread myalgias, morning stiffness, and tender points (rheumatologic comorbidity, such as fibromyalgia)

• Reduced effectiveness of local anesthetics, such as those used at the dentist or during minor procedures (frequently reported by patients; controlled studies are limited)

Core Symptom of hEDS vs. Symptom of Comorbidity Chart

Summary

Hypermobile Ehlers-Danlos syndrome (hEDS) is a complex, multisystem connective tissue disorder with hallmark empirically supported features such as generalized joint hypermobility, joint instability, chronic musculoskeletal pain, and skin fragility. Most symptoms listed here are well supported in peer-reviewed research, systematic reviews, and clinical guidelines.

A smaller group of features — including torus palatinus and mandibular tori, increased nail fragility, motor coordination difficulties, vestibular dysfunction, dystonia, Chiari malformation, tethered cord, Tarlov cysts, mast cell activation, immune deficiencies, neuropsychiatric conditions, laryngeal disorders, reduced anesthetic effectiveness, and some sensory sensitivities — are primarily supported by patient reports, small case series, or expert opinion. Their prevalence and direct association with hEDS remain under investigation.

It is also important to note that some features represent comorbid conditions rather than direct symptoms of hEDS. Comorbidities such as postural orthostatic tachycardia syndrome, mast cell activation disorders, eosinophilic esophagitis, asthma, fibromyalgia, ADHD, and PTSD occur more frequently in people with hEDS but are not caused by the syndrome itself. These are included here for completeness, since they often contribute substantially to overall quality of life and clinical management.

This distinction underscores the importance of individualized evaluation. Clinicians should recognize both well-established and emerging features, while interpreting comorbid conditions with caution until further empirical evidence is available. Comprehensive care often requires a multidisciplinary approach including symptom tracking, lifestyle adaptation, and physical and emotional support.