Leri-Weill Dyschondrosteosis (LWD)

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Disease Ontology 12 DOID:0060847 OMIM® 57 127300 MeSH 44 C537119 NCIt 50 C126560 SNOMED-CT 67 17818006 MESH via Orphanet 45 C537119

ICD10 via Orphanet 33 Q77.8 UMLS via Orphanet 71 C0265309 Orphanet 58 ORPHA240 MedGen 41 C0152441 C0265309 CN031459 SNOMED-CT via HPO 68 111266001 125617002 205170001 249321001 254044004 263681008 27272007 299236004 299330008 299331007 416189003 417558002 43476002 4530000 64217002 74370006 80400009 84445001 93288001 more UMLS 70 C0265309

GARD : ²⁰ Leri Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty. People with this condition often experience pain in their wrists or arms. The severity of Leri Weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. Other features of Leri Weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called tibia, elbow abnormalities, scoliosis, and high-arched palate. Intelligence is not affected by this condition. Most cases of Leri Weill dyschondrosteosis are caused by mutations in or near the SHOX gene. The cause of the disorder remains unknown in those cases not related to the SHOX gene. Leri Weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance, which is similar to the autosomal dominant inheritance. LWD is part of a group of diseases caused by deficiency of the SHOX gene, which includes a form or SHOX related short stature without additional problems.

MalaCards based summary : Leri-Weill Dyschondrosteosis, also known as lwd, is related to madelung deformity and langer mesomelic dysplasia. An important gene associated with Leri-Weill Dyschondrosteosis is SHOX (Short Stature Homeobox). Affiliated tissues include bone, skeletal muscle and eye, and related phenotypes are depressed nasal bridge and wide nasal bridge

Disease Ontology : ¹² An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has material basis in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.

MedlinePlus Genetics : ⁴³ Léri-Weill dyschondrosteosis is a disorder of bone growth. Affected individuals typically have shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Leri-Weill dyschondrosteosis typically have short stature. Most people with the condition also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. This abnormality usually appears in childhood or early adolescence. Other features of Léri-Weill dyschondrosteosis can include increased muscle mass (muscle hypertrophy); bowing of a bone in the lower leg called the tibia; a greater-than-normal angling of the elbow away from the body (increased carrying angle); and a high arched palate.Léri-Weill dyschondrosteosis occurs in both males and females, although its signs and symptoms tend to be more severe in females. Researchers believe that the more severe features may result from hormonal differences.

OMIM® : ⁵⁷ 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. (127300) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : ⁷² Leri-Weill dyschondrosteosis: Dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna.

Wikipedia : ⁷³ Léri-Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in... more...

Clinical features from OMIM®:

127300 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Leri-Weill Dyschondrosteosis

Search GEO for disease gene expression data for Leri-Weill Dyschondrosteosis.