Rare Disease Library

Microphthalmia-microtia-fetal akinesia syndrome

Thomas-Jewett-Raines syndrome

External auditory canal atresia-vertical talus-hypertelorism syndrome

Rasmussen-Johnsen-Thomsen syndrome

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Osteosclerotic bone dysplasia

Raine syndrome

Progressive deafness with stapes fixation

Stapedo-vestibular ankylosis · Thies-Reis syndrome

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

Rett syndrome

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome