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 short stature, and has symptoms including high vaulted/narrow palate, rhizomelic micromelia and mesomelic 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.

Description from OMIM:⁴⁷ 249700

External Ids:

OMIM47 249700 MESH via Orphanet36 C537267 ICD10 via Orphanet26 Q87.1

SNOMED-CT via Orphanet58 38494008 UMLS via Orphanet62 C0432230

Clinical features from OMIM:

249700

Clinical synopsis from OMIM:

249700

Symptoms:

⁴⁹ (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

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