Leri-Weill Dyschondrosteosis - Symptoms, Causes, Treatment
网页2020年2月18日 · Leri-Weill dyschondrosteosis (LWD) is a rare genetic disorder characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature, which is defined as a child who has a height below percentile 3 (P3) for age, gender and …
Léri-Weill dyschondrosteosis | About the Disease | GARD
网页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.
Léri–Weill dyschondrosteosis - Wikipedia
网页Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).
Leri-Weill dyschondrosteosis - National Organization for Rare …
网页Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.
SHOX Deficiency Disorders - GeneReviews® - NCBI Bookshelf
网页2005年12月12日 · The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum.
Léri-Weill dyschondrosteosis - MedlinePlus
网页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.
Léri-Weill dyschondrosteosis | Getting a Diagnosis | GARD
网页Learn about diagnosis and specialist referrals for Léri-Weill dyschondrosteosis.
Orphanet: Léri-Weill dyschondrosteosis
网页Léri-Weill dyschondrosteosis. Suggest an update. Disease definition. A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity. ORPHA:240. Classification level: Disorder. Synonym (s): Léri-Weill syndrome. Prevalence: Unknown. Inheritance: Autosomal dominant.
Entry - #127300 - LERI-WEILL DYSCHONDROSTEOSIS; LWD
网页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.
Léri-Weill dyschondrosteosis | Resources and Support | GARD
网页Learn about research and find clinical studies for Léri-Weill dyschondrosteosis.
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