Classical Ehlers-Danlos syndrome

What it is

From: Orphanet

A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Atrophic scars · Very frequent (99-80%)

Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.

Cigarette-paper scars · Very frequent (99-80%)

Thin (atrophic) and wide scars.

Fragile skin · Very frequent (99-80%)

Skin that splits easily with minimal injury.

Generalized joint hypermobility · Very frequent (99-80%)

Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.

Hyperextensible skin · Very frequent (99-80%)

A condition in which the skin can be stretched beyond normal, and then returns to its initial position.

Soft, doughy skin · Very frequent (99-80%)

A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.

Striae distensae · Very frequent (99-80%)

Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.

Chronic constipation · Frequent (79-30%)

Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.

Fatigue · Frequent (79-30%)

A subjective feeling of tiredness characterized by a lack of energy and motivation.

Gastroesophageal reflux · Frequent (79-30%)

A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.

Hypotonia · Frequent (79-30%)

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

Joint dislocation · Frequent (79-30%)

Displacement or malalignment of joints.

Muscle spasm · Frequent (79-30%)

Sudden and involuntary contractions of one or more muscles.

Muscle weakness · Frequent (79-30%)

Reduced strength of muscles.

Other findings in the same source

From: Orphanet

Additional reported features include Nausea (Frequent (79-30%)); Osteopenia (Frequent (79-30%)); Poor wound healing (Frequent (79-30%)); Pulp calcification (Frequent (79-30%)); Vomiting (Frequent (79-30%)); Hernia (Frequent (79-30%)); Abnormal cornea morphology (Occasional (29-5%)); Abnormal foot morphology (Occasional (29-5%)); Abnormal heart valve physiology (Occasional (29-5%)); Abnormality of the temporomandibular joint (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Childhood; Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal dominant

Frequency and the population described

From: Orphanet

Point prevalence: 1-9 / 100 000; Worldwide; Value and class.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal dominant pattern means that one altered copy of a relevant gene can be sufficient for the condition. Some affected people inherit the change; others have a new change without an affected parent. The precise finding, family history and condition determine what this means for relatives.

Which doctor should you see?

The suggested department for discussing Classical Ehlers-Danlos syndrome is Clinical Genetics, with a clinical geneticist as the relevant type of clinician. General physician or paediatrician, with referral to a clinical geneticist.

Additional services that may be relevant, depending on the findings, include: Rheumatology; physiotherapy or other organ specialists according to findings.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Does the exact genetic or chromosome finding explain the observed features?
• Would a genetic counsellor help the family understand the result?
• Which organ-specific assessments are appropriate for this particular diagnosis?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Classical Ehlers-Danlos syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.