National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Weill-Marchesani syndrome

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Other Names:
WM Syndrome; WMS; Spherophakia-brachymorphia syndrome; WM Syndrome; WMS; Spherophakia-brachymorphia syndrome; Mesodermal dysmorphodystrophy congenital See More
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Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this syndrome are usually short in height and often have short fingers and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes problems with the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. An eye lens problem called microspherophakia is characteristic of Weill-Marchesani syndrome. Microspherophakia 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). Occasionally patients with this syndrome have heart defects.[1][2] In some families this syndrome is inherited in an autosomal recessive pattern and caused by mutations in the ADAMTS10 or LTBP2 genes. It can also have autosomal dominant inheritance, and in these cases is caused by a FBN1 gene mutation.[1]  Treatments for Weill-Marchesani syndrome are symptomatic and supportive.[3] People with this condition usually need regular eye exams and sometimes need eye surgery.[1]
Last updated: 9/29/2017
Signs and symptoms of Weill-Marchesani syndrome may include:[1][2]
  • Short height, but arms, legs, body, and head size are all proportionate to height: Adult height for men ranges from 4 feet, 8 inches to 5 feet, 6 inches (or 142-169 cm) and adult height for women ranges from 4 feet, 3 inches to 5 feet, 2 inches (or 130-157 cm)
  • Short fingers (brachdactyly)
  • Joint stiffness 
  • Eye problems, which are typically recognized in childhood and include small spherical lens (microspherophakia), severe nearsightedness (myopia), abnormal position of the lens (ectopia lentis), and glaucoma, all of which can result in vision loss 
  • Heart problems, such as pulmonary valve stenosis or ductus arteriosus. 
Usually people with Weill-Marchesani syndrome have normal intelligence.[1]  
Last updated: 9/30/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 40 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Brachydactyly
Short fingers or toes
0001156
Glaucoma 0000501
High myopia
Severe near sightedness
Severely near sighted
Severely close sighted
[ more ] 		0011003
Short stature
Small stature
Decreased body height
[ more ] 		0004322
Short thumb
Short thumbs
Small thumbs
[ more ] 		0009778
30%-79% of people have these symptoms
Ectopia lentis 0001083
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] 		0001376
Thickened skin
Thick skin
0001072
5%-29% of people have these symptoms
Aortic valve stenosis
Narrowing of aortic valve
0001650
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Intellectual disability, mild
Mild and nonprogressive mental retardation
Mental retardation, borderline-mild
Mild mental retardation
[ more ] 		0001256
Mitral regurgitation 0001653
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Visual loss
Loss of vision
Vision loss
[ more ] 		0000572
1%-4% of people have these symptoms
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Microspherophakia 0030961
Percent of people who have these symptoms is not available through HPO
Abnormality of dental morphology
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth
[ more ] 		0006482
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Blindness 0000618
Brachycephaly
Short and broad skull
0000248
Broad metacarpals
Wide long bones of hand
0001230
Broad metatarsal
Wide long bone of foot
0001783
Broad palm
Broad hand
Broad hands
Wide palm
[ more ] 		0001169
Broad phalanges of the hand
Wide hand bones
0009768
Broad ribs
Wide ribs
0000885
Broad skull
Increased width of skull
Wide skull
[ more ] 		0002682
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] 		0000327
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Misalignment of teeth
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth
[ more ] 		0000692
Narrow palate
Narrow roof of mouth
0000189
Patent ductus arteriosus 0001643
Proportionate short stature 0003508
Scoliosis 0002650
Shallow anterior chamber 0000594
Shallow orbits
Decreased depth of eye sockets
Shallow eye sockets
[ more ] 		0000586
Spinal canal stenosis
Narrow spinal canal
0003416
Thin bony cortex 0002753
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Last updated: 7/1/2020
Weill-Marchesani syndrome is usually caused by changes or mutations in the ADAMTS10 gene. In some cases, it can be caused by changes in the either the FBN1 gene or the LTBP2 gene.[1]
Last updated: 9/30/2017
The diagnosis of Weill-Marchesani syndrome is made by a doctor when a child has the characteristic signs and symptoms of the syndrome. Genetic testing can help confirm the diagnosis.[1]
Last updated: 9/30/2017

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Although there is no cure for Weill-Marchesani syndrome, there are treatments that can help minimize or correct many of the symptoms that do develop.[3] People with this syndrome often need a team of medical specialists, including pediatricians, eye specialists (ophthalmologists and optometrists), orthopedists, and cardiologists.[3][2]

Regular eye exams are important for early diagnosis of eye problems. A timely diagnosis and treatment of developing eye problems is very important to increase the chance that vision loss can be minimized. Corrective glasses, visual aids, or eye surgery may be needed to improve vision. Removal of the microspherophakia is recommended to control intraocular pressure and improve vision. Increased pressure within the eye (glaucoma) may be treated with eye drops, laser therapy, surgical removal of the iris or lens. Contraction or dilation of the pupils can cause glaucoma in some people with Weill-Marchesani syndrome. Medications that contract the pupil must be avoided, and medications that dilate the pupils must be given with care.[3][2]

Joint stiffness and bone abnormalities can cause complications if anesthesia is needed. A person with Weill-Marchesani syndrome needs to tell their doctor, surgeon, and anesthesiologist of the diagnosis before receiving anesthesia, as the syndrome can impact airway management.[3]

Recommended evaluations when a child is first diagnosed with Weill-Marchesani syndrome include:[1] 
  • Complete eye exam by an ophthalmologist
  • Evaluation by a medical genetics specialist
  • Cardiac echocardiogram

Last updated: 9/30/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Weill-Marchesani syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    The Online Mendelian Inheritance in Man (OMIM)
    The Online Mendelian Inheritance in Man (OMIM)
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Weill-Marchesani syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Three of my children have been diagnosed with Weill-Marchesani syndrome. Can you please provide me with information about this rare disease?  See answer


  1. Tsilou E & MacDonald I. Weill-Marchesani Syndrome. GeneReviews. 2013; http://www.ncbi.nlm.nih.gov/books/NBK1114/.
  2. Weill-Marchesani syndrome. Genetics Home Reference. 2015; https://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome#resources.
  3. Weill-Marchesani Syndrome. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/weill-marchesani-syndrome/.
  4. Guo H, Wu X, Cai K &i Qiao Z. Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. BMC Ophthalmology. 2015; 15:3. https://bmcophthalmol.biomedcentral.com/articles/10.1186/1471-2415-15-3.