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1 OMIM reference -
1 associated gene
13 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Langer mesomelic dysplasia
Shox-related short stature

SHOX SHOX


COMMON
GENES
SHOX



Citations in the biomedical literature:


Langer mesomelic dysplasia
SHOX
Shox-related short stature



Langer mesomelic dysplasia
Shox-related short stature

Synonym(s):
- Mesomelic dwarfism, Langer type

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C537267
External references:
1 OMIM reference -
No MeSH references

Langer mesomelic dysplasia

Very frequent
- 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

Occasional
- Hypoplastic mandibula / partial absence of the mandibula


Shox-related short stature

(no data available)