Liberfarb syndrome

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, Liberfarb syndrome, short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome, spondyloepimetaphyseal dysplasia, Liberfarb Type

0 clinical trials for this condition and its sub-types, 0 tagged with Liberfarb syndrome itself.