Search
Langer mesomelic dysplasia
Epidemiology:
- rare
Pathology:
- skeletal dysplasia
Genetics:
- autosomal recessive
- associated with defects in SHOX
Clinical manifestations:
- severe short stature owing to shortening & maldevelopment of the mesomelic & rhizomelic segments of the limbs
- associated malformations are rarely reported
- intellect is normal
General
skeletal dysplasia
Database Correlations
OMIM 249700
References
OMIM :accession 249700