Weill-marchesani syndrome 2

Preferred Label : Weill-marchesani syndrome 2;

Symbol : WMS2;

CISMeF acronym : GEMSS; WMS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spherophakia-brachymorphia syndrome; Weill-marchesani syndrome, autosomal dominant; GEMSS; Mesodermal dysmorphodystrophy, congenital; Glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome;

Description : Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see 277600.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibrillin-1 gene (FBN1, 134797.0040);

Prefixed ID : #608328;

Details

Origin ID

608328;

UMLS CUI

C1869115;

Automatic exact mappings (from CISMeF team)
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome [ORDO Disease]
- Marchesani syndrome (disorder) [Inactive SNOMED CT concept]
- Weill-Marchesani syndrome [ORDO Disease]
- Weill-Marchesani syndrome [DO Concept]
- Weill-Marchesani syndrome [MeSH Descriptor]
- Weill-Marchesani syndrome [MeSH concept]
- Weill-Marchesani syndrome, autosomal dominant [MeSH concept]
Broader ORDO disease(s)
- Weill-Marchesani syndrome [ORDO Disease]
DO Cross reference
- Weill-Marchesani syndrome [DO Concept]
Genes related to phenotype
- Fibrillin 1 [OMIM gene]
HPO term(s)
- Abnormality of dental morphology [HPO term]
- Adult female height 130-157 cm [HPO term]
- Adult male height 142-169 cm [HPO term]
- Aortic valve stenosis [HPO term]
- Ascending aortic dissection [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Broad metacarpals [HPO term]
- Broad metatarsal [HPO term]
- Broad palm [HPO term]
- Broad phalanges of the hand [HPO term]
- Broad ribs [HPO term]
- Broad skull [HPO term]
- Cataract [HPO term]
- Congestive heart failure [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed glabella [HPO term]
- Depressed nasal bridge [HPO term]
- Ectopia lentis [HPO term]
- Elbow flexion contracture [HPO term]
- Flattened nasal bridge [HPO term]
- Flexion contracture of toe [HPO term]
- Glaucoma [HPO term]
- High myopia [HPO term]
- High palate [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability, mild [HPO term]
- Iridodonesis [HPO term]
- Joint stiffness [HPO term]
- Lack of skin elasticity [HPO term]
- Lens luxation [HPO term]
- Lumbar hyperlordosis [HPO term]
- Microspherophakia [HPO term]
- Mitral regurgitation [HPO term]
- Narrow palate [HPO term]
- Patent ductus arteriosus [HPO term]
- Proportionate short stature [HPO term]
- Protuberant abdomen [HPO term]
- Pulmonic stenosis [HPO term]
- Scoliosis [HPO term]
- Shallow anterior chamber [HPO term]
- Shallow orbits [HPO term]
- Short finger [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short stature [HPO term]
- Short stature, proportionate [HPO term]
- Small shallow orbits [HPO term]
- Spinal canal stenosis [HPO term]
- Striae distensae [HPO term]
- Thickened helices [HPO term]
- Thickened skin [HPO term]
- Thin bony cortex [HPO term]
- Tooth malposition [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome [ORDO Disease]
- Weill-Marchesani syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Weill-Marchesani syndrome, autosomal dominant [MeSH concept]
Validated automatic mappings to NTBT
- Weill Marchesani syndrome [Disease (Nov.)]
- Weill-Marchesani syndrome (disorder) [SNOMED CT concept]

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