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Disease Profile
Weill-Marchesani syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Infancy
ICD-10
Q87.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
WM Syndrome; WMS; Spherophakia-brachymorphia syndrome;
Categories
Congenital and Genetic Diseases; Connective tissue diseases; Eye diseases;
Summary
Weill-Marchesani
Symptoms
- 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]
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Short fingers or toes
|
0001156 | |
Glaucoma | 0000501 | |
High myopia |
Severe near sightedness
Severely close sighted
Severely near sighted
[ more ] |
0011003 |
Decreased body height
Small stature
[ 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 |
5%-29% of people have these symptoms | ||
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
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 |
0000006 | ||
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 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
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 |
Mitral regurgitation | 0001653 | |
Narrow palate |
Narrow roof of mouth
|
0000189 |
Patent ductus arteriosus | 0001643 | |
Proportionate short stature | 0003508 | |
0002650 | ||
Shallow anterior chamber | 0000594 | |
Shallow orbits |
Decreased depth of eye sockets
Shallow eye sockets
[ more ] |
0000586 |
Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
Thickened skin |
Thick skin
|
0001072 |
Thin bony cortex | 0002753 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Diagnosis
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.
Treatment
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 (
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
Organizations
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
-
Children's Glaucoma Foundation
2 Longfellow Place
Suite 201
Boston, MA 02114
Telephone: 617-227-3011
Website: https://www.childrensglaucomafoundation.org -
Glaucoma Research Foundation
251 Post Street, Suite 600
San Francisco, CA 94108
Toll-free: 800-826-6693
Telephone: 415-986-3162
Fax: 415-986-3763
E-mail: [email protected]
Website: https://www.glaucoma.org -
Little People of America, Inc.
617 Broadway #518
Sonoma, CA 95476
Toll-free: 1-888-572-2001
Telephone: +1-714-368-3689
Fax: +1-707-721-1896
E-mail: [email protected]
Website: https://www.lpaonline.org/
Organizations Providing General Support
-
Glaucoma UK
Woodcote House
15 Highpoint Business Village
Henwood
Ashford
Kent TN24 3DH
United Kingdom
Telephone: +44 (0)1233 64 81 70
E-mail: [email protected]
Website: https://glaucoma.uk/ -
Human Growth Foundation
997 Glen Cove Avenue, Suite 5
Glen Head, NY 11545
Toll-free: 1-800-451-6434
Fax: 516-671-4055
E-mail: [email protected]
Website: https://www.hgfound.org/
Learn more
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.
References
- Tsilou E & MacDonald I. Weill-Marchesani Syndrome. GeneReviews. 2013; https://www.ncbi.nlm.nih.gov/books/NBK1114/.
- Weill-Marchesani syndrome. Genetics Home Reference. 2015; https://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome#resources.
- Weill-Marchesani Syndrome. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/weill-marchesani-syndrome/.
- 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.
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