Langer mesomelic dysplasia

Home » Classic Medicine » Syndromes » Langer mesomelic dysplasia
Langer mesomelic dysplasia2016-11-26T15:00:04+00:00

Langer mesomelic dysplasia


Definition An über rare autosomal recessive skeletal dysplasia (OMIM:249700) characterised by severe short stature due to shortened and maldeveloped mesomelic and rhizomelic segments of limbs. Extraskeletal malformations are rare; IQ is normal in all subjects reported to date. 

Molecular pathology Defects of SHOX–which controls fundamental aspects of growth and development, cause Langer mesomelic dysplasia 

Synonyms Dyschondrosteosis—homozygous, mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type


Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.