Weill-Marchesani syndrome

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.

The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition ranges from 4 feet, 3 inches to 5 feet, 2 inches.

An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness.

Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome.

ORPHANET DEFINITION A rare connective tissue disorder characterized by acromelic short stature, joint stiffness, stiff and thick skin, and characteristic eye abnormalities including microspherophakia, ectopia lentis, severe myopia, and glaucoma.

Inheritance

From: MedlinePlus Genetics, National Library of Medicine

Autosomal recessive; Autosomal dominant

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.

Brachydactyly · Very frequent (99-80%)

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

Glaucoma · Very frequent (99-80%)

Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.

High myopia · Very frequent (99-80%)

A severe form of myopia with greater than -6.00 diopters.

Microspherophakia · Very frequent (99-80%)

Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses.

Short stature · Very frequent (99-80%)

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Short thumb · Very frequent (99-80%)

Hypoplasia (congenital reduction in size) of the thumb.

Abnormal cardiovascular system morphology · Frequent (79-30%)

Any structural anomaly of the heart and blood vessels.

Ectopia lentis · Frequent (79-30%)

Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.

Limitation of joint mobility · Frequent (79-30%)

A reduction in the freedom of movement of one or more joints.

Thickened skin · Frequent (79-30%)

Laminar thickening of skin.

Aortic valve stenosis · Occasional (29-5%)

The presence of a stenosis (narrowing) of the aortic valve.

Cataract · Occasional (29-5%)

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Delayed skeletal maturation · Occasional (29-5%)

A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.

Intellectual disability, mild · Occasional (29-5%)

Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.

Other findings in the same source

From: Orphanet

Additional reported features include Joint stiffness (Occasional (29-5%)); Mitral regurgitation (Occasional (29-5%)); Patent ductus arteriosus (Occasional (29-5%)); Prolonged QTc interval (Occasional (29-5%)); Pulmonic stenosis (Occasional (29-5%)); Ventricular septal defect (Occasional (29-5%)); Visual loss (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: MedlinePlus Genetics, National Library of Medicine

Childhood; Infancy; Neonatal

Inheritance in the source

From: MedlinePlus Genetics, National Library of Medicine

Autosomal recessive; Autosomal dominant

Which doctor should you see?

The suggested department for discussing Weill-Marchesani syndrome is Clinical Genetics, with a clinical geneticist as the relevant type of clinician. Paediatrician (children) or physician (adults), with clinical geneticist referral.

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 Weill-Marchesani 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.