<aside>
Mesomelia refers to disproportionate shortening of the middle segments of the limbs—the radius and ulna (forearm) and the tibia and fibula (lower leg)—relative to the proximal (humerus/femur) and distal segments (hands/feet).
</aside>
- Limb Segment Terminology
| Segment | Term | Bones Involved |
|---|---|---|
| Proximal | Rhizomelia | Humerus, Femur |
| Middle | Mesomelia | Radius/Ulna, Tibia/Fibula |
| Distal | Acromelia | Hands, Feet |
| Entire Limb | Micromelia | All segments shortened |
| Feature | Description |
|---|---|
| Short forearms/lower legs | Most visible when compared to upper arms or thighs |
| Wrist or ankle deformities | Due to abnormal bone development |
| Functional limitation | May include reduced range of motion or limb alignment issues |
| Disproportionate short stature | Body disproportionately short compared to trunk |
Plain Radiographs
| Finding | Description |
|---|---|
| Short radius/ulna or tibia/fibula | Relative to humerus/femur |
| Curved or bowed shafts | May be associated with dysplasia or deformity |
| Epiphyseal anomalies | Particularly in dyschondrosteosis or chondrodysplasias |
| Delayed bone age | Seen in some endocrine/metabolic disorders |
A. Skeletal Dysplasias
| Condition | Distinguishing Features |
|---|---|
| Léri-Weill dyschondrosteosis | Mesomelia + Madelung deformity; due to SHOX gene mutation |
| Mesomelic dysplasia | Includes Langer and Ellis types; severe mesomelia, dysplastic bones |
| Ellis-van Creveld syndrome | Mesomelia + polydactyly, short ribs, heart defects |
B. Genetic Syndromes
| Syndrome | Key Features |
|---|---|
| Turner syndrome | SHOX haploinsufficiency → mild mesomelia |
| Robinow syndrome | Mesomelia + genital hypoplasia + craniofacial anomalies |
| Down syndrome | Occasionally mild mesomelic shortening of forearms/legs |
C. Endocrine/Metabolic
| Condition | Notes |
|---|---|
| Hypothyroidism | May cause generalized short stature with possible mesomelic prominence |
| ‣ | May mimic mesomelic shortening due to short metaphyseal segments |