Rare Disease Library

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Frydman-Cohen-Karmon syndrome

Cogan syndrome

Cohen syndrome

Cohen-Gibson syndrome

EED-related overgrowth syndrome

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Lowe-Kohn-Cohen syndrome

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