Musculocontractural Ehlers-Danlos syndrome

What it is

From: Orphanet

A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.

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.

Abnormal bleeding · Very frequent (99-80%)

An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.

Abnormal pinna morphology · Very frequent (99-80%)

An abnormality of the pinna, which is also referred to as the auricle or external ear.

Abnormal sternum morphology · Very frequent (99-80%)

An anomaly of the sternum, also known as the breastbone.

Abnormality of the cervical spine · Very frequent (99-80%)

Any abnormality of the cervical vertebral column.

Arthrogryposis multiplex congenita · Very frequent (99-80%)

Multiple congenital contractures in different body areas.

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.

Blue sclerae · Very frequent (99-80%)

An abnormal bluish coloration of the sclera.

Bruising susceptibility · Very frequent (99-80%)

An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Congenital contracture · Very frequent (99-80%)

One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.

Cryptorchidism · Very frequent (99-80%)

Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.

Decreased palmar creases · Very frequent (99-80%)

Poorly defined or shallow palmar creases.

Delayed gross motor development · Very frequent (99-80%)

A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.

Disproportionate tall stature · Very frequent (99-80%)

A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.

Downslanted palpebral fissures · Very frequent (99-80%)

The palpebral fissure inclination is more than two standard deviations below the mean.

Other findings in the same source

From: Orphanet

Additional reported features include Dysesthesia (Very frequent (99-80%)); Generalized joint hypermobility (Very frequent (99-80%)); High palate (Very frequent (99-80%)); Hyperextensible skin (Very frequent (99-80%)); Hypertelorism (Very frequent (99-80%)); Large fontanelles (Very frequent (99-80%)); Long philtrum (Very frequent (99-80%)); Macrotia (Very frequent (99-80%)); Muscle weakness (Very frequent (99-80%)); Narrow mouth (Very frequent (99-80%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Reported case(s): 34.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Musculocontractural Ehlers-Danlos syndrome is Rheumatology, with a rheumatologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

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.

• Are the findings inflammatory, structural or due to another mechanism?
• Is there evidence that other organs need assessment?
• How will function and any treatment-related risks be monitored?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Musculocontractural 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.