Rare Disease Library

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Bernard-Soulier syndrome

Giant platelet syndrome · Hemorrhagiparous thrombocytic dystrophy

Congenital cataract-anterior segment dysgenesis syndrome

Congenital cataract-anterior segment mesenchymal dysgenesis syndrome · Congenital cataract-ASD syndrome

Congenital long QT syndrome

Congenital LQTS

Congenital myasthenic syndrome

CMS

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Congenital short bowel syndrome

Congenital short QT syndrome

Congenital SQTS

Congenital varicella syndrome

Mother-to-child transmission of varicella syndrome · Antenatal varicella virus infection

Congenital vascular bone syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Lethal congenital contracture syndrome

LCCS

Oley syndrome

Congenital hypotrichosis-milia syndrome

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Synaptic congenital myasthenic syndrome