Synonym(s): - Mesomelic dwarfism, Langer type
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C537267
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SHOX	O15266	312865

- Bowed diaphysis / diaphyses / long bones
- Epiphyseal anomaly
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- High vaulted / narrow palate
- Madelung's deformity
- Mesomelic micromelia
- Rhizomelic micromelia
- Short stature / dwarfism / nanism
- Ulnar deviation of fingers
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Wrist / carpal anomalies

- Hypoplastic mandibula / partial absence of the mandibula