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Weill-Marchesani syndrome
Información en español (/espanol/13377/sindrome-de-weill-marchesani)
Other Names: WM Syndrome; WMS; Spherophakia-brachymorphia syndrome; See More
Categories: Congenital and Genetic Diseases (/diseases/diseases-by-category/5); Connective
tissue diseases (/diseases/diseases-by-category/27); Eye diseases (/diseases/diseases-by-
category/9); See More

Summary

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 (https://ghr.nlm.nih.gov/gene/ADAMTS10) or LTBP2
(https://ghr.nlm.nih.gov/gene/LTBP2#conditions) genes. It can also have autosomal dominant
inheritance, and in these cases is caused by a FBN1 (https://ghr.nlm.nih.gov/gene/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

Symptoms

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 (http://www2.merriam-webster.com/cgi-bin/mwmednlm?
book=Medical&va=brachydactyly))
Joint stiffness 
Eye problems, which are typically recognized in childhood and include small spherical lens
(microspherophakia), severe nearsightedness (myopia (http://www2.merriam-webster.com/cgi-
bin/mwmednlm?book=Medical&va=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
(http://www.nlm.nih.gov/medlineplus/ency/article/001096.htm) or ductus arteriosus
(http://www.nhlbi.nih.gov/health/dci/Diseases/pda/pda_what.html). 
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) 
(http://www.human-phenotype-ontology.org/). 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 40 of 40 | View Less

Learn More:
Medical Terms Other Names
HPO ID
80%-99% of people have these symptoms
Brachydactyly Short fingers or toes 0001156 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000115
6)
Glaucoma 0000501 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000050
1)
High myopia Severely close sighted 0011003 
Severe near sightedness (http://compbi
Severely near sighted o.charite.de/hp
[ less  ] oweb/showter
m?
id=HP:001100
3)
Short stature Small stature 0004322 
Decreased body height (http://compbi
[ less  ] o.charite.de/hp
oweb/showter
m?
id=HP:000432
2)
 Learn More:
Medical Terms Other Names
HPO ID
Short thumb Short thumbs 0009778 
Small thumbs (http://compbi
[ less  ] o.charite.de/hp
oweb/showter
m?
id=HP:000977
8)
30%-79% of people have these symptoms
Ectopia lentis 0001083 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000108
3)
Limitation of joint mobility Decreased joint mobility 0001376 
Decreased mobility of joints (http://compbi
Limited joint mobility o.charite.de/hp
Limited joint motion oweb/showter
[ less  ] m?
id=HP:000137
6)
Thickened skin Thick skin 0001072 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000107
2)
5%-29% of people have these symptoms
Aortic valve stenosis Narrowing of aortic valve 0001650 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000165
0)
 Learn More:
Medical Terms Other Names
HPO ID
Cataract Clouding of the lens of the eye 0000518 
Cloudy lens (http://compbi
[ less  ] o.charite.de/hp
oweb/showter
m?
id=HP:000051
8)
Intellectual disability, mild Mild and nonprogressive mental retardation 0001256 
Mental retardation, borderline-mild (http://compbi
Mild mental retardation o.charite.de/hp
[ less  ] oweb/showter
m?
id=HP:000125
6)
Mitral regurgitation 0001653 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000165
3)
Pulmonic stenosis Narrowing of pulmonic valve 0001642 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000164
2)
Ventricular septal defect Hole in heart wall separating two lower heart 0001629 
chambers (http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000162
9)
Visual loss Loss of vision 0000572 
Vision loss (http://compbi
[ less  ] o.charite.de/hp
oweb/showter
m?
id=HP:000057
2)
 Learn More:
Medical Terms Other Names
HPO ID
1%-4% of people have these symptoms
Joint stiffness Stiff joint 0001387 
Stiff joints (http://compbi
[ less  ] o.charite.de/hp
oweb/showter
m?
id=HP:000138
7)
Microspherophakia 0030961 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:003096
1)
Percent of people who have these symptoms is not available through HPO
Abnormality of dental Abnormality of dental shape 0006482 
morphology Abnormally shaped teeth (http://compbi
Deformity of teeth o.charite.de/hp
Dental deformity oweb/showter
Dental malformations m?
Malformed teeth id=HP:000648
Misshapen teeth 2)
Misshapened teeth
[ less  ]
Autosomal dominant 0000006 
inheritance (http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000000
6)
Autosomal recessive 0000007 
inheritance (http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000000
7)
 Learn More:
Medical Terms Other Names
HPO ID
Blindness 0000618 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000061
8)
Brachycephaly Short and broad skull 0000248 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000024
8)
Broad metacarpals Wide long bones of hand 0001230 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000123
0)
Broad metatarsal Wide long bone of foot 0001783 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000178
3)
Broad palm Broad hand 0001169 
Broad hands (http://compbi
Wide palm o.charite.de/hp
[ less  ] oweb/showter
m?
id=HP:000116
9)
Broad phalanges of the hand Wide hand bones 0009768 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000976
8)
 Learn More:
Medical Terms Other Names
HPO ID
Broad ribs Wide ribs 0000885 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000088
5)
Broad skull Increased width of skull 0002682 
Wide skull (http://compbi
[ less  ] o.charite.de/hp
oweb/showter
m?
id=HP:000268
2)
Depressed nasal bridge Depressed bridge of nose 0005280 
Flat bridge of nose (http://compbi
Flat nasal bridge o.charite.de/hp
Flat, nasal bridge oweb/showter
Flattened nasal bridge m?
Low nasal bridge id=HP:000528
Low nasal root 0)
[ less  ]
Hypoplasia of the maxilla Decreased size of maxilla 0000327 
Decreased size of upper jaw (http://compbi
Maxillary deficiency o.charite.de/hp
Maxillary retrusion oweb/showter
Small maxilla m?
Small upper jaw id=HP:000032
Small upper jaw bones 7)
Upper jaw deficiency
Upper jaw retrusion
[ less  ]
Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000293
8)
 Learn More:
Medical Terms Other Names
HPO ID
Misalignment of teeth Abnormal dental position 0000692 
Abnormal teeth spacing (http://compbi
Abnormality of alignment of teeth o.charite.de/hp
Abnormality of teeth spacing oweb/showter
Crooked teeth m?
Malaligned teeth id=HP:000069
Malposition of teeth 2)
Malpositioned teeth
[ less  ]
Narrow palate Narrow roof of mouth 0000189 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000018
9)
Patent ductus arteriosus 0001643 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000164
3)
Proportionate short stature 0003508 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000350
8)
Scoliosis Abnormal curving of the spine 0002650 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000265
0)
 Learn More:
Medical Terms Other Names
HPO ID
Shallow anterior chamber 0000594 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000059
4)
Shallow orbits Decreased depth of eye sockets 0000586 
Shallow eye sockets (http://compbi
[ less  ] o.charite.de/hp
oweb/showter
m?
id=HP:000058
6)
Spinal canal stenosis Narrow spinal canal 0003416 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000341
6)
Thin bony cortex 0002753 
(http://compbi
o.charite.de/hp
oweb/showter
m?
id=HP:000275
3)
Showing 40 of 40 | View Less

Do you have more information about symptoms of this disease? We want to hear from you.
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Last updated: 10/1/2019

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Cause
Weill-Marchesani syndrome is usually caused by changes or mutations in the ADAMTS10
(http://ghr.nlm.nih.gov/gene/ADAMTS10) gene. In some cases, it can be caused by changes in the
either the FBN1 (http://ghr.nlm.nih.gov/gene/FBN1) gene or the LTBP2
(http://ghr.nlm.nih.gov/gene/LTBP2) gene.[1]
Last updated: 9/30/2017

Diagnosis

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 (https://www.ncbi.nlm.nih.gov/gtr/conditions/C0265313/) (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

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 (http://www.aapos.org/terms/conditions/132)), 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 (http://www.aao.org/about/eyemds.cfm)

Evaluation by a medical genetics specialist

 Cardiac echocardiogram

Last updated: 9/30/2017

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