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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Weill-Marchesani syndrome


Other Names for this Disease

  • Mesodermal dysmorphodystrophy congenital
  • Spherophakia-brachymorphia syndrome
  • WM Syndrome
  • WMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Weill-Marchesani syndrome?

Variability in symptoms exist among individuals who have Weill-Marchesani syndrome. The features of this condition include proportionate short stature, short fingers (called brachdactyly), and joint stiffness. Eye problems are typically recognized in childhood and include microspherophakia (small spherical lens), severe nearsightedness (myopia), ectopia lentis (abnormal position of the lens), and glaucoma, all of which can affect vision. Occasionally people with Weill-Marchesani syndrome have heart abnormalities such as pulmonary valve stenosis or ductus arteriosus. Most individuals with Weill-Marchesani syndrome have normal intelligence.[1]  
Last updated: 10/3/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Weill-Marchesani syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Aplasia/Hypoplasia of the lens 90%
Brachydactyly syndrome 90%
Ectopia lentis 90%
Glaucoma 90%
Myopia 90%
Short stature 90%
Short toe 90%
Limitation of joint mobility 50%
Thickened skin 50%
Intellectual disability, mild 11%
Abnormality of the aortic valve 7.5%
Abnormality of the mitral valve 7.5%
Abnormality of the pulmonary valve 7.5%
Cataract 7.5%
Cognitive impairment 7.5%
Ventricular septal defect 7.5%
Visual impairment 7.5%
Abnormality of dental morphology -
Abnormality of dental morphology -
Aortic valve stenosis -
Aortic valve stenosis -
Autosomal dominant inheritance -
Autosomal recessive inheritance -
Blindness -
Blindness -
Brachycephaly -
Brachycephaly -
Brachydactyly syndrome -
Brachydactyly syndrome -
Broad metacarpals -
Broad metacarpals -
Broad metatarsal -
Broad metatarsal -
Broad palm -
Broad palm -
Broad phalanges of the hand -
Broad phalanges of the hand -
Broad ribs -
Broad ribs -
Broad skull -
Broad skull -
Cataract -
Cataract -
Depressed nasal bridge -
Depressed nasal bridge -
Ectopia lentis -
Glaucoma -
Hypoplasia of the maxilla -
Hypoplasia of the maxilla -
Intellectual disability, mild -
Joint stiffness -
Joint stiffness -
Lumbar hyperlordosis -
Lumbar hyperlordosis -
Misalignment of teeth -
Misalignment of teeth -
Mitral regurgitation -
Mitral regurgitation -
Narrow palate -
Narrow palate -
Patent ductus arteriosus -
Patent ductus arteriosus -
Proportionate short stature -
Proportionate short stature -
Pulmonic stenosis -
Pulmonic stenosis -
Scoliosis -
Scoliosis -
Severe Myopia -
Severe Myopia -
Shallow anterior chamber -
Shallow anterior chamber -
Shallow orbits -
Shallow orbits -
Spinal canal stenosis -
Spinal canal stenosis -
Thin bony cortex -
Thin bony cortex -
Ventricular septal defect -
Ventricular septal defect -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Ekaterini Tsilou and Ian M MacDonald. Weill-Marchesani Syndrome. GeneReviews. 02/14/2013; http://www.ncbi.nlm.nih.gov/books/NBK1114/. Accessed 10/3/2013.


Other Names for this Disease
  • Mesodermal dysmorphodystrophy congenital
  • Spherophakia-brachymorphia syndrome
  • WM Syndrome
  • WMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.