Langer Mesomelic Dysplasia (LMD) malady

Genetics Home Reference:²¹ 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: Langer Mesomelic Dysplasia, also known as mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type, is related to dwarfism and turner syndrome, and has symptoms including hypoplastic mandibula/partial absence of the mandibula, short stature/dwarfism/nanism and bowed diaphysis/diaphyses/long bones. 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.

Wikipedia:⁶³ Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone... more...

Description from OMIM:⁴⁶ 249700

External Ids:

OMIM46 249700 MESH via Orphanet35 C537267 ICD10 via Orphanet26 Q87.1

SNOMED-CT via Orphanet57 38494008 UMLS via Orphanet61 C0432230

Clinical features from OMIM:

249700

Clinical synopsis from OMIM:

249700

Symptoms:

⁴⁸ (show all 13)

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

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

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