Rare Disease Library

Cardiospondylocarpofacial syndrome

Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome

Conductive deafness-ptosis-skeletal anomalies syndrome

Jackson-Barr syndrome · Conductive hearing loss-ptosis-skeletal anomalies syndrome

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome · Pfeiffer-Kapferer syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Lowe-Kohn-Cohen syndrome

Deafness-nephritis-ano-rectal malformation syndrome · Hearing loss-nephritis-ano-rectal malformation syndrome

Nathalie syndrome

Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

Night blindness-skeletal anomalies-dysmorphism syndrome

Hunter-Thompson-Reed syndrome