Leri-Weill Dyschondrosteosis (LWD)

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OMIM 57 127300 Disease Ontology 12 DOID:0060847 ICD10 33 Q77.8 MeSH 44 C537119 Orphanet 59 ORPHA240 ORPHA35688 ICD10 via Orphanet 34 Q77.8 Q74.0

MESH via Orphanet 45 C537119 UMLS via Orphanet 74 C0265309 C0152441 MedGen 42 C0265309 C0152441 CN031459 SNOMED-CT via HPO 69 263681008 27272007 249321001 43476002 84445001 111266001 64217002 299236004 254044004 299330008 299331007 74370006 205170001 93288001 125617002 417558002 4530000 416189003 80400009 more UMLS 73 C0265309

NIH Rare Diseases : ⁵³ 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 langer mesomelic dysplasia and achondroplasia. An important gene associated with Leri-Weill Dyschondrosteosis is SHOX (Short Stature Homeobox), and among its related pathways/superpathways is Endochondral Ossification. Affiliated tissues include bone and skeletal muscle, and related phenotypes are genu valgum and scoliosis

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)

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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.

Wikipedia : ⁷⁶ Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in... more...

Clinical features from OMIM:

127300

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

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