Langer mesomelic dysplasiaJoe Segen2016-11-26T15:00:04+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