Opitz syndrome

Definition

Opitz syndrome is a heterogeneous genetic condition characterized by a range of midline birth defects such as hypertelorism, clefts in the lips and larynx, heart defects, hypospadias and agenesis of the corpus callosum.

Description

Opitz syndrome or Opitz G/BBB syndrome, as it is sometimes called, includes G syndrome and BBB syndrome, which were originally thought to be two different syndromes. In 1969, Dr. John Opitz described two similar conditions that he called G syndrome and BBB syndrome. G syndrome was named after one family affected with this syndrome whose last name began with the initial G and BBB syndrome was named after the surname of three different families. Subsequent research suggested that these two conditions were one disorder but researchers could not agree on...

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