Young-simpson syndrome

General: Rare congenital syndrome.

Ocular: Blepharophimosis.

Clinical: Congenital hypothyroidism; congenital heart defects; facial dysmorphism (microcephaly, bulbous nose, low-set ears, micrognathia); cryptorchism in males; hypotonia; mental retardation; postnatal growth retardation.

Bonthron DT, et al. Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). J Med Genet 1993; 30:255-256.

Makamura T, Noma S. A Japanese boy with Young-Simpson syndrome. Paediatr Jpn

Masuno M, et al. Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. J Med Genet 1999; 84:8-l1.