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Weill-Marchesani syndrome 2, dominant

Synonyms
FBN1-Related Weill-Marchesani Syndrome; Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome; Weill-Marchesani Syndrome, Autosomal Dominant; Weill-Marchesani syndrome 2
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Weill-Marchesani Syndrome
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Pauline Marzin
Valérie Cormier-Daire
Ekaterini Tsilou
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Available tests

96 tests are in the database for this condition.

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Clinical tests (96 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, FBN1
    Summary: fibrillin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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