Langer Mesomelic Dysplasia malady

Genetics Home Reference: Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna and a bone in the lower leg called the fibula are often underdeveloped or absent, while other bones in the forearm (the radius) and lower leg (the tibia) are unusually short, thick, and curved. Some people with Langer mesomelic dysplasia also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. Additionally, some affected individuals have mild underdevelopment of the lower jaw bone (mandible).¹⁷

MalaCards: Langer Mesomelic Dysplasia, also known as mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type, is related to mesomelic dysplasia and chst3-related skeletal dysplasia. An important gene associated with Langer Mesomelic Dysplasia is SHOX (short stature homeobox). The compound steroid have been mentioned in the context of this disorder.

OMIM: 249700

langer mesomelic dysplasia 7 30 17 33 32 43 mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type 17 mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type 30 dyschondrosteosis, homozygous 30

dyschondrosteosis homozygous 17 mesomelic dysplasia 43 lmd 17

Diseases related to langer mesomelic dysplasia by text searches and GeneDecks gene sharing:

(show all 23)

id	Related Disease	Score	Top Affiliating Genes
1	mesomelic dysplasia	32.7	COMP, SHOX
2	chst3-related skeletal dysplasia	12.3	COMP, SHOX
3	achondroplasia	12.2	COMP, SHOX
4	dwarfism	12.2	SHOX, COMP
5	chondrodysplasia	12.1	COMP, SHOX
6	hypertrophy of breast	12.1	COMP, SHOX
7	short stature	12.0	COMP, SHOX
8	boomerang dysplasia	11.8	COMP, SHOX
9	mesomelic dysplasia kantaputra type	9.2
10	mesomelic dysplasia savarirayan type	8.1
11	acro coxo mesomelic dysplasia	7.8
12	mesomelic dysplasia skin dimples	7.8
13	mesomelic dysplasia, kozlowski-reardon type	7.8
14	mesomelic dysplasia, nievergelt type	7.8
15	mesomelic dysplasia, werner type	7.8
16	langer mesomelic dwarfism	7.7
17	fibular hypoplasia	7.2
18	ulna and fibula, hypoplasia of	7.2
19	fryns hofkens fabry syndrome	6.3
20	mesomelic dwarfism cleft palate camptodactyly	6.3
21	mesomelic dwarfism of hypoplastic tibia and radius type	6.3
22	robinow syndrome	6.3
23	turner syndrome	6.3

Clinical features from OMIM: 249700

Approved drugs:

Drug clinical trials:

Articles related to langer mesomelic dysplasia:

id	Title	Authors	Year	Affiliating Genes
1	The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. (17935511)	Bertorelli R.... Forabosco A.	2007	SHOX
2	Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD). (17394206)	Campos-Barros A.... Heath K.E.	2007	COMP
3	Complete SHOX deficiency causes Langer mesomelic dysplasia. (12116254)	Zinn A.R.... Ross J.L.	2002	SHOX
4	Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. (11186941)	Robertson S.P.... Savarirayan R.	2000	SHOX

Genes related to langer mesomelic dysplasia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SHOX	short stature homeobox	11.1	Publications
2	COMP	cartilage oligomeric matrix protein	11.0	Publications

Compounds related to langer mesomelic dysplasia according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	steroid32	9.1	COMP, SHOX

Biological processes related to langer mesomelic dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:001501	9.1	COMP, SHOX