Weill-Marchesani Syndrome

RCMI Coordinating Center (RCMI CC)

Weill-Marchesani Syndrome

"Weill-Marchesani Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.

Descriptor ID	D056846
MeSH Number(s)	C05.116.099.343.957 C11.270.921 C16.131.077.941 C16.320.290.842 C17.300.899
Concept/Terms	Weill-Marchesani Syndrome Weill-Marchesani Syndrome Marchesani Syndrome Weill Marchesani Syndrome Mesodermal Dysmorphodystrophy, Congenital Congenital Mesodermal Dysmorphodystrophies Dysmorphodystrophies, Congenital Mesodermal Dysmorphodystrophy, Congenital Mesodermal Mesodermal Dysmorphodystrophies, Congenital Spherophakia Brachymorphia Syndrome Spherophakia Brachymorphia Syndromes Syndrome, Spherophakia Brachymorphia Syndromes, Spherophakia Brachymorphia Spherophakia-Brachymorphia Syndrome Congenital Mesodermal Dysmorphodystrophy Marchesani-Weill Syndrome Marchesani Weill Syndrome Marchesani-Weill Syndromes Weill-Marchesani Syndrome, Autosomal Recessive Weill-Marchesani Syndrome, Autosomal Recessive Weill Marchesani Syndrome, Autosomal Recessive Weill-Marchesani Syndrome, Autosomal Dominant Weill-Marchesani Syndrome, Autosomal Dominant Weill Marchesani Syndrome, Autosomal Dominant Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome GEMSS

Below are MeSH descriptors whose meaning is more general than "Weill-Marchesani Syndrome".

Diseases [C]
Musculoskeletal Diseases [C05]
Bone Diseases [C05.116]
Bone Diseases, Developmental [C05.116.099]
Dwarfism [C05.116.099.343]
Weill-Marchesani Syndrome [C05.116.099.343.957]
Eye Diseases [C11]
Eye Diseases, Hereditary [C11.270]
Weill-Marchesani Syndrome [C11.270.921]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Weill-Marchesani Syndrome [C16.131.077.941]
Genetic Diseases, Inborn [C16.320]
Eye Diseases, Hereditary [C16.320.290]
Weill-Marchesani Syndrome [C16.320.290.842]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Weill-Marchesani Syndrome [C17.300.899]

Below are MeSH descriptors whose meaning is related to "Weill-Marchesani Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Weill-Marchesani Syndrome".

publications

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RCMI CC is supported by the National Institute on Minority Health and Health Disparities, National Institutes of Health (NIH), through Grant Number U24MD015970. The contents of this site are solely the responsibility of the authors and do not necessarily represent the official views of the NIH

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