dyschondrosteosis

A skeletal dysplasia, more severe in females and with a female preponderance, characterized by bowing of radius, dorsal dislocation of the distal ulna with limited movement of the elbow and wrist (wrist deformity is called Madelung deformity), and mesomelic dwarfism; dominant inheritance, caused by mutation in the short stature homeobox gene (SHOX) on the pseudoautosomal region of Xp. Langer mesomelic dysplasia, the homozygous form of d., is also caused by homozygous mutations in the SHOX gene. SYN: Leri pleonosteosis, Leri-Weill disease, Leri-Weill syndrome. [dys- + G. chondros, cartilage, + osteon, bone, + -osis, condition]

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dys·chon·dros·te·o·sis (dis″kon-dros″te-oґsis) a form of dyschondroplasia that may produce micromelia.

Medical dictionary. 2011.

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  • Lйri-Weill dyschondrosteosis (syndrome) — Lй·ri Weill dyschondrosteosis (syndrome) (la reґ vīlґ) [A. Lйri; Jean A. Weill, French physician, 20th century] see under dyschondrosteosis …   Medical dictionary

  • Léri-Weill dyschondrosteosis — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 31950 ICD10 = ICD9 = ICD9|756.59 ICDO = OMIM = 127300 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Léri Weill dyschondrosteosis or LWD is a rare genetic disorder which results in… …   Wikipedia

  • Lйri-Weill dyschondrosteosis — a dominantly inherited syndrome caused by mutations in pseudoautosomal region 1 (locus: Ypter p11.2, Xpter p22.32), characterized by short stature, mesomelic shortening, and Madelung deformity. Mutations affect the SHOX and SHOXY genes, which… …   Medical dictionary

  • Short stature homeobox gene — or SHOX is a gene on the X chromosome and Y chromosome which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency). PathologyThe gene was first found during a search for the cause of short stature… …   Wikipedia

  • Pseudoautosomale Region — Ausschnitt aus einer menschlichen Metaphase Spreitung. Eine Region in der pseudoautosomalen Region auf den kurzen Armen des X Chromosoms (links) und des Y Chromosoms (rechts oben) wurde mit Fluoreszenz in situ Hybridisierung nachgewiesen (grüne… …   Deutsch Wikipedia

  • Pseudoautosomale Regionen — Ausschnitt aus einer menschlichen Metaphase Spreitung. Eine Region in der pseudoautosomalen Region auf den kurzen Armen des X Chromosoms (links) und des Y Chromosoms (rechts oben) wurde mit Fluoreszenz in situ Hybridisierung nachgewiesen (grüne… …   Deutsch Wikipedia

  • SHOX — Short stature homeobox Isoformen SHOXA, SHOXB Bezei …   Deutsch Wikipedia

  • Madelung's deformity — Infobox Disease Name = PAGENAME Caption = Madelung deformation, a type of bone malformation associated with both SHOX and SHOXY genes mutations. DiseasesDB = 32115 ICD10 = ICD10|Q|74|0|q|65 ICD9 = ICD9|755.54 ICDO = OMIM = 127300 MedlinePlus =… …   Wikipedia

  • Achondroplasia — Classification and external resources Jason Acuña, alias Wee Man , a star of Jackass …   Wikipedia

  • List of diseases (D) — A list of diseases in the English wikipedia.DiseasesTOC D* D ercole syndromeDa* Daentl Towsend Siegel syndrome * Dahlberg Borer Newcomer syndrome * Daish Hardman Lamont syndrome * Dandy Walker facial hemangioma * Dandy Walker malformation… …   Wikipedia

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