Langer Mesomelic Dysplasia (LMD) malady

Genetics Home Reference:²² 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).

MalaCards based summary: Langer Mesomelic Dysplasia, also known as mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type, is related to dwarfism and short stature, and has symptoms including abnormality of the palate, abnormality of the femur and micromelia. 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. Affiliated tissues include bone.

OMIM:⁴⁶ Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula,... (249700) more...

Wikipedia:⁶⁴ Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...

External Ids:

OMIM46 249700 MESH via Orphanet35 C537267

ICD10 via Orphanet27 Q87.1 UMLS via Orphanet62 C0432230

Symptoms by clinical synopsis from OMIM:

249700

Clinical features from OMIM:

249700

Symptoms:

 ⁴⁸ (show all 13)

high vaulted/narrow palate rhizomelic micromelia mesomelic micromelia ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray wrist/carpal anomalies madelung's deformity ulnar deviation of fingers

femur anomaly/absence/agenesis/hypoplasia/bifurcation fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly epiphyseal anomaly bowed diaphysis/diaphyses/long bones short stature/dwarfism/nanism hypoplastic mandibula/partial absence of the mandibula

HPO human phenotypes related to Langer Mesomelic Dysplasia:

(show all 24)

id	Description	Frequency	HPO Source Accession
1	abnormality of the palate	hallmark (90%)	HP:0000174
2	abnormality of the femur	hallmark (90%)	HP:0002823
3	micromelia	hallmark (90%)	HP:0002983
4	abnormality of the fibula	hallmark (90%)	HP:0002991
5	abnormality of the ulna	hallmark (90%)	HP:0002997
6	madelung deformity	hallmark (90%)	HP:0003067
7	short stature	hallmark (90%)	HP:0004322
8	abnormality of the epiphyses	hallmark (90%)	HP:0005930
9	bowing of the long bones	hallmark (90%)	HP:0006487
10	ulnar deviation of finger	hallmark (90%)	HP:0009465
11	micrognathia	occasional (7.5%)	HP:0000347
12	autosomal recessive inheritance		HP:0000007
13	micrognathia		HP:0000347
14	lumbar hyperlordosis		HP:0002938
15	hypoplasia of the radius		HP:0002984
16	radial bowing		HP:0002986
17	hypoplasia of the ulna		HP:0003022
18	mesomelia		HP:0003027
19	madelung deformity		HP:0003067
20	broad ulna		HP:0003993
21	rudimentary fibula		HP:0006381
22	shortening of the tibia		HP:0006436
23	mesomelic short stature		HP:0008845
24	short femoral neck		HP:0100864

Search GEO for disease gene expression data for Langer Mesomelic Dysplasia.