<unk>  is a rare syndrome that follows autosomal dominant inheritance pattern.<unk>  is a multisystem disorder characterized by physiological and developmental defects which include long QT-prolongation, arrhythmias, structural heart defects, syndactyly and autism spectrum disorders.<unk>  may be classified into 2 groups, classical form(type-1) and atypical form(type-2).<unk>  caused by mutations in CACNA1C, which encodes for calcium channel α subunit.<unk>  often ends in early death. The United States of America in order to categorize a condition as a rare disease it should affect fewer than 200,000 people. Rare diseases also called as orphan diseases. Orphan Drug Act was passed in 1983 by congress for the rare diseases. Today an average of 25-30 million Americans have been reported with rare diseases. The number of people with individual rare disease may be less but overall the number of people with rare diseases are large in number.
Timothy syndrome
Goldenhar syndrome
Joubert syndrome
Wolfram syndrome
Axenfeld syndrome
Cohen syndrome
Young Simpson syndrome
Bardet-Biedl syndrome