Ohdo syndrome

Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation.Other symptoms include transient hypothyroidism, macular degeneration and torticollis. The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome. [Source: Wikipedia ]

Synonyms
Blepharophimosis syndrome Ohdo type
Blepharophimosis-intellectual deficit syndrome Ohdo type
BMRS Ohdo type
Ohdo-Madokoro-Sonoda syndrome
OrphaNet reference
Blepharophimosis-intellectual deficit syndrome, Ohdo type 
May Cause
Blepharophimosis
Congenital heart disease
Deafness
Dental defect
Eyelid ptosis
Intellectual deficit
Joint laxity