recessive Robinow syndrome

Pathology

• skeletal dysplasia

Genetics

• associated with defects in ROR2

Clinical manifestations

• generalized limb bone shortening
• segmental defects of the spine
• brachydactyly
• dysmorphic facial appearance

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/268310