Opitz G,Opitz, Syndrome, Lucas, Lucas Towstego, Towstego, g syndrome, bbb syndrome, Opitz Frias, library, hiatis hernia, diaphragmatic hernia, cleft lip, cleft palate

Opitz G/BBB syndrome is known by many syndrome names including: Opitz, Opitz-Frias, G, BBB, and Hypertelorism- hypospadias syndromes. This genetic condition includes a variety of midline anomalies. The degree of involvement among individuals , even within the same family, can vary greatly.

The “G syndrome” and the “BBB syndrome” were first described in 1969 by Dr. John M. Opitz and colleagues. Research determined the two syndromes are the same with differing manifestations in individuals. The names G and BBB were combined. Most often now this condition is called Opitz G/BBB syndrome. Research in 1995 established the genes which determine this syndrome are located on both Xp22 and on 22q11. Opitz G/BBB syndrome can be either X-linked on Xp22, (called MID1) or have an autosomal dominant pattern of inheritance on 22q11. Current research is mapping the specific genes on these chromosomes. A highly specialized laboratory test is ready for the MID1 gene, but the 22q will be in the near future. The most reliable way to diagnose this syndrome is through a thorough clinical evaluation made by a highly skilled, board certified geneticist who is familiar with this particular syndrome. There are other syndromes associated with the name of Dr.Opitz. A FISH test does not rule out a diagnosis of Opitz G/BBB syndrome.

Opitz G/BBB syndrome involves midline anomalies. Most often these include wide-set eyes and other features (hypertelorism), an abnormal opening in the penis (hypospadias), swallowing defects (dysphagia), an abnormality of the anal opening (imperforate anus), undescended testes (cryptorchidism), and a variety of clefts. Often there is a brain malformation called agenesis of the corpus callosum. In addition to these most common manifestations, there are many other anomalies associated with Opitz G/BBB syndrome. An individual does not have to exhibit each of these to have the diagnosis.

large, or small, head in proportion to the body, "widow's peak" of hair, wide-set eyes, epicanthic folds on the inside corners of the eyes, crossed eyes, small or low-set ears, small ear canals, frequent ear or sinus infections, malformed sinuses, flat nasal bridge, wide nose, small, upturned nostrils, thin upper lip, high palate, short lingual frenum, crowded or missing teeth or abnormal placement, small chin or lower jaw, swallowing difficulties, dysphagia, reflux, oral defensiveness, small stomach, mild to severe constipation, tracheomalacia, wheezing, hoarse, or weak voice, stridor, snoring, "asthma-like” symptoms, congenital or cerebral hypotonia, scoliosis "failure to thrive," slow weight gain, caved in, or caved out chest, a variety of hernias, congenital heart and/or kidney defects, dry skin, abnormal pigmentation, birthmarks, moles, hypospadias, undescended testes, chordee splayed labia majora, imperforate anus, sacral dimple, flat feet with crowded toes, bent fingers, single transverse flexion, crease in hands, central nervous system defects, seizures, sensorineural deafness, mild mental retardation, "autistic-like” behaviors, developmental, speech delays.

It is important to prevent aspirations as pneumonias and damage to the lungs may result. Aspiration prevents oxygen from reaching the brain and may be responsible for mental deficiencies. Aspirations may cause death. Alternative feeding methods, including g-tubes are often used.