Liberfarb syndrome (MONDO_0030045) is a progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. Also known as: LIBF, short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome, spondyloepimetaphyseal dysplasia, Liberfarb Type.