Opitz/BBBG Syndrome !!!!!

Opitz G/BBB Syndrome.. 

Me came to this syndrome by checking BBB Synd(AIIMS May 2008 Q 175 Expln) 

A dysmorphic syndrome in which males have hypospadias of variable degree and hypertelorism, whereas females carriers display only telecanthus. Associated defects may include cleft lip and palate, urinary malformations, cryptorchidism, cardiovascular disorders and mental retardation. Etiology unknown. Mode of inheritance is uncertain. It may be due to an autosomal or X-chromosomal dominant gene with variable expressivity. Some authors suggest that this and the hypospadias-dysphagia syndrome (G syndrome) represent the same entity, hence the designation BBBG syndrome.

Opitz, Smith, and Summitt in 1965 described the first three families. The term BBB syndrome comes from the initials of these three families. 

Synonyms .......REALLY FUNNY to see so much names!!!.

• BBBG Syndrome
• Hypertelorism with Esophageal Abnormalities and Hypospadias
• Hypertelorism-Hypospadias Syndrome
• Hypospadias-Dysphagia Syndrome
• Opitz BBB Syndrome
• Opitz BBBG Syndrome
• Opitz BBB/G Compound Syndrome
• Opitz G Syndrome
• Opitz Hypertelorism-Hypospadias Syndrome
• Opitz Oculogenitolaryngeal Syndrome
• Opitz-Frias Syndrome
• Telecanthus-Hypospadias Syndrome
• Opitz Syndrome

Disorder Subdivisions

• BBB Syndrome (Opitz)
• G Syndrome

General Discussion

Opitz G/BBB Syndrome or Opitz Syndrome is a genetic disorder that may be evident at birth. The syndrome may be characterized by distinctive malformations of the head and facial (craniofacial) area, 

including widely set eyes (ocular hypertelorism); 

an abnormal groove in the upper lip (cleft lip); 

incomplete closure of the roof of the mouth (cleft palate); 

upwardly or downwardly slanting eyelid folds (palpebral fissures); 

vertical skin folds that may cover the eyes' inner corners (epicanthal folds); 

or a wide, flat nasal bridge. 

In addition, in affected males, abnormalities typically include failure of the testes to descend into the scrotum (cryptorchidism), clefting of the scrotum (bifid scrotum), or abnormal placement of the urinary opening (meatus) on the underside of the penis (hypospadias). Affected individuals may also have malformations of the trachea and the larynx,

underdevelopment of the lungs (pulmonary hypoplasia); and associated swallowing and breathing difficulties. 

Opitz Syndrome may also be characterized by additional abnormalities, including partial or complete closure of the anal opening (imperforate anus); underdevelopment or absence of the thick band of nerve fibers that joins the two hemispheres of the brain (hypoplasia or agenesis of the corpus callosum); kidney (renal) abnormalities; heart (cardiac) defects; or mental retardation.

Opitz Syndrome was originally categorized as two distinct disorders: i.e., Opitz G and Opitz BBB Syndromes. Yet many investigators have since determined that the disorders represent the same clinical entity with different modes of genetic transmission. The form of the disorder previously designated as Opitz BBB Syndrome is transmitted as an X-linked trait. This X-linked disorder appears to be caused by changes (mutations) of a gene, known as MID1 (for "midline-1"), that is located on the short arm (p) of chromosome X (Xp22). The form originally classified as Opitz G Syndrome is inherited as an autosomal dominant trait. It is thought to result from deletions of genetic material from the long arm (q) of chromosome 22 (22q11.2).
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