Leri-weill dyschondrosteosis

Preferred Label : Leri-weill dyschondrosteosis;

Symbol : LWD;

CISMeF acronym : DCO; LWD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dyschondrosteosis; DCO;

Included titles and symbols : Madelung deformity;

Description : Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965). See also Langer mesomelic dysplasia (LMD; 249700), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.;

Inheritance : Pseudoautosomal dominant;

Molecular basis : Caused by mutation in the short stature homeo box gene (SHOX, 312865.0002);

Prefixed ID : #127300;

Details

Origin ID

127300;

UMLS CUI

C0265309;

Automatic exact mappings (from CISMeF team)
- Carpus curvus [MedDRA Preferred Term]
- Dyschondrosteosis [PASCAL descriptor]
- Dyschondrosteosis [MedDRA Preferred Term]
- Madelung deformity [ORDO Disease]
- Madelung deformity [Radlex concept]
- Madelung deformity [HPO term]
- Madelung deformity [PASCAL descriptor]
- Madelung deformity [ICD-11 Subcategory]
- Madelung's deformity [HRDO Sign]
- Madelung's deformity [MedDRA LLT]
- Madelung's deformity [ICD-9 code]
- Other congenital malformations of upper limb(s), including shoulder girdle [ICD-10 Sub-category]
- dorsal cochlear nucleus [UBERON concept]
- madelung deformity [MeSH concept]
- madelung deformity [MeSH Supplementary Concept]
- madelung's deformity [SNOMED Notion]
Currated CISMeF NLP mapping
- Leri Weill dyschondrosteosis [Disease (Nov.)]
- Leri-Weil syndrome [MeSH concept]
- Leri-Weil syndrome [MeSH Supplementary Concept]
- Leri-Weill Dyschondrosteosis [NCIt concept]
- Leri-Weill dyschondrosteosis [DO Concept]
- Leri-Weill dyschondrosteosis (disorder) [SNOMED CT concept]
- Leri-Weill syndrome [MedDRA LLT]
- Léri-Weill dyschondrosteosis [ICD-11 More detail]
- Léri-Weill dyschondrosteosis [ORDO Disease]
- leri-weill dyschondrosteosis [SNOMED Notion]
DO Cross reference
- Leri-Weill dyschondrosteosis [DO Concept]
Genes related to phenotype
- Short stature homeobox [OMIM gene]
- Short stature homeobox, y-linked [OMIM gene]
HPO term(s)
- Abnormal femoral neck morphology [HPO term]
- Abnormal metacarpal morphology [HPO term]
- Abnormal metatarsal morphology [HPO term]
- Abnormality of the humerus [HPO term]
- Abnormality of the metacarpal bones [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coxa valga [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Dorsal subluxation of ulna [HPO term]
- Fibular hypoplasia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Increased carrying angle [HPO term]
- Limited elbow movement [HPO term]
- Limited wrist movement [HPO term]
- Madelung deformity [HPO term]
- Mesomelia [HPO term]
- Multiple exostoses [HPO term]
- Radial bowing [HPO term]
- Scoliosis [HPO term]
- Short 4th metacarpal [HPO term]
- Short tibia [HPO term]
- Short toe [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Tibial bowing [HPO term]
ORDO concept(s)
- Léri-Weill dyschondrosteosis [ORDO Disease]
- Madelung deformity [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyschondrosteosis [MedDRA Preferred Term]
- Leri Weill dyschondrosteosis [Disease (Nov.)]
- Leri-Weil syndrome [MeSH Supplementary Concept]
- Leri-Weil syndrome [MeSH concept]
- Leri-Weill Dyschondrosteosis [NCIt concept]
- Leri-Weill dyschondrosteosis [DO Concept]
- Leri-Weill dyschondrosteosis (disorder) [SNOMED CT concept]
- Leri-Weill syndrome [MedDRA LLT]
- Léri-Weill dyschondrosteosis [ORDO Disease]
- Léri-Weill dyschondrosteosis [ICD-11 More detail]
- leri-weill dyschondrosteosis [SNOMED Notion]
Validated automatic mappings to NTBT
- Madelung's deformity (disorder) [SNOMED CT concept]

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