Leri-weill Dyschondrosteosis malady

NIH Rare Diseases: Leri Weill dyschondrosteosis 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 bones in the forearms and lower 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, elbow abnormalities, scoliosis, high-arched palate, and exostoses. Intelligence is not affected by this condition. In around 70 percent of cases, Leri Weill dyschondrosteosis is caused by mutations in or near one copy of the SHOX gene in each cell. The cause of the disorder remains unknown in the remaining 30 percent of cases.³⁰

MalaCards: Leri-weill Dyschondrosteosis, also known as léri-weill dyschondrosteosis, is related to short stature and hypochondroplasia. An important gene associated with Leri-weill Dyschondrosteosis is SHOX (short stature homeobox). Affiliated tissues include skeletal muscle.

Genetics Home Reference: 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.¹⁷

Wikipedia: Léri–Weill dyschondrosteosis or LWD is a rare autosomal dominant genetic disorder which results in...⁴⁴ more...

OMIM: 127300

leri-weill dyschondrosteosis 7 33 32 léri-weill dyschondrosteosis 30 16 17 dyschondrosteosis 30 16 17 lwd 30 17

dco 30 17 leri weill dyschondrosteosis 30 leri-weill syndrome 16 melorheostosis 43

Diseases related to leri-weill dyschondrosteosis by text searches and GeneDecks gene sharing:

(show all 27)

id	Related Disease	Score	Top Affiliating Genes
1	short stature	33.8	SHOX, FGFR3, LBX1
2	hypochondroplasia	31.5	FGFR3, SHOX
3	achondroplasia	31.4	SHOX, FGFR3
4	hearing loss	26.9	FGFR3, SHOX
5	growth disorders	12.6	FGFR3, SHOX
6	chst3-related skeletal dysplasia	12.6	FGFR3, SHOX
7	recessive developmental delay, small stature, microcephaly and brain calcifications	12.5	FGFR3, SHOX
8	growth retardation with deafness and mental retardation due to igf1 deficiency	12.5	SHOX, FGFR3
9	dwarfism	12.4	FGFR3, SHOX
10	chondrodysplasia	12.4	FGFR3, SHOX
11	brachydactyly	12.3	LBX1, FGFR3
12	boomerang dysplasia	12.2	FGFR3, SHOX
13	adenoiditis	12.1	LBX1, FGFR3
14	hypertrophy of breast	12.0	SHOX, FGFR3
15	scoliosis	11.8	LBX1, FGFR3, SHOX
16	turner syndrome	9.8
17	melorheostosis	9.3
18	x inactivation	7.7
19	melorheostosis with osteopoikilosis	7.5
20	osteopoikilosis	7.5
21	buschke-ollendorff syndrome	7.1
22	dyschondrosteosis nephritis	6.5
23	langer mesomelic dysplasia	6.5
24	breast cancer	5.9
25	low density lipoprotein cholesterol level qtl 1	5.7
26	low density lipoprotein cholesterol level qtl 3	5.7
27	low density lipoprotein cholesterol level qtl6	5.7

Clinical features from OMIM: 127300

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to leri-weill dyschondrosteosis:

²²

Articles related to leri-weill dyschondrosteosis:

(show all 19)

id	Title	Authors	Year	Affiliating Genes
1	The jumping SHOX gene--crossover in the pseudoautosom al region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. (21068148)	Kant S.G.... Breuning M.H.	2011	SHOX
2	Clinical and molecular evaluation of SHOX/PAR1 duplic ations in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) . (21147883)	Benito-Sanz S.... Heath K.E.	2011	SHOX
3	Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Leri-Weill dyschondrosteosis. (18322641)	Fukami M.... Ogata T.	2008	SHOX
4	Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. (17091221)	Gatta V.... Stuppia L.	2007	SHOX
5	SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. (17201812)	Jorge A.A.... Mendonca B.B.	2007	SHOX
6	PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Leri-Weill dyschondrosteosis (LWD) probands. (16941489)	Benito-Sanz S.... Heath K.E.	2006	SHOX
7	Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. (16826534)	Benito-Sanz S.... Heath K.E.	2006	SHOX
8	The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (16227037)	Ross J.L.... Zinn A.R.	2005	SHOX
9	A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. (16175500)	Benito-Sanz S.... Heath K.E.	2005	SHOX
10	Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. (15931687)	Schneider K.U.... Rappold G.	2005	SHOX
11	SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. (15356038)	Binder G.... Ranke M.B.	2004	SHOX
12	A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia. (15173249)	Sabherwal N.... Rappold G.	2004	SHOX
13	Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. (12476453)	Ross J.L.... Zinn A.R.	2003	FGFR3, SHOX
14	Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. (11677662)	Munns C.F.... Vickers D.	2001	SHOX, LBX1
15	From gene to disease; from SHOX to Leri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature (11503314)	Kant S.G.... Drop S.L.	2001	SHOX
16	Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome. (11509862)	Binder G.... Ranke M.B.	2001	SHOX
17	Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. (10905666)	Palka G.... Calabrese G.	2000	SHOX, LBX1
18	Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. (10507731)	Stuppia L.... Palka G.	1999	SHOX
19	Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. (9590293)	Shears D.J.... Winter R.M.	1998	SHOX

Genes related to leri-weill dyschondrosteosis according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SHOX	short stature homeobox	11.1	Publications
2	LBX1	ladybird homeobox 1	11.1	Publications
3	FGFR3	fibroblast growth factor receptor 3	11.1	Publications

Biological processes related to leri-weill dyschondrosteosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:001501	9.3	FGFR3, SHOX

Molecular functions related to leri-weill dyschondrosteosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription regulatory region sequence-specific DNA binding	GO:000976	9.0	LBX1, SHOX