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Parents' Description of Opitz G/BBB Syndrome

Opitz G/BBB syndrome, Opitz syndrome, G syndrome, BBB syndrome,
Opitz BBB/G syndrome, Hypospadias-Dysphagia syndrome, Opitz-Frias
syndrome, Oculogenitolaryngeal syndrome, and Hypertelorism-Hypospadias
syndrome are all names for the same condition. With this syndrome there
can be different manifestations in individuals, even within the same

This genetic syndrome includes a variety of midline and bilateral anomalies. A genetic syndrome is an hereditary condition caused by the genes of the family and ancestors of the affected child.
It is not caused by something the mother did, or did not do, while pregnant. When an individual has a genetic syndrome they have manifestations, or anomalies, that are similar to other individuals who
have the same syndrome. An anomaly is anything this is differently formed. The degree of involvement among individuals, even within the same family, can vary greatly. Opitz G/BBB syndrome is considered “uncommon.” The number of affected individuals is unknown as the syndrome is not always accurately diagnosed. With careful medical treatment it is possible for individuals who have Opitz G/BBB syndrome to live long lives.
In 1969 Dr. Opitz and colleagues described two syndromes. Each was named for the surnames, or last names, of the families in whom they were first discovered. The G syndrome (G) was described by John Opitz,
Jaime Frias, James Gutenberger, and John Pellet. It was named for one family whose last name began with the initial G. The BBB syndrome (BBB) was described by John Opitz, Robert Summitt, and David Smith. In BBB
syndrome (BBB) the three initials stood for three separate families in whom it was discovered. At that time the two syndromes were believed to be separate syndromes. Research in 1995 established that the genes
which determine this syndrome are located on both Xp22 (the X chromosome) and on 22q (chromosome 22). This means the syndrome can be either X-linked recessive on Xp22, or it can have an autosomal dominant
pattern of inheritance on 22q. Only males have the form on Xp22. In the case of being on 22q both males and females can manifest and transmit the characteristics to sons and daughters. It was determined through this research that the two syndromes, once thought to be separate, are one and the same syndrome with differing manifestations in individuals, even within the same family. The names G and BBB were combined. Most often now this condition is called Opitz G/BBB syndrome. Ongoing research hopes to find a blood test to determine
carriers of the defective gene. The specific genes on the chromosomes are being mapped. A highly specialized laboratory test is not yet available, but will be in the near future. At this point the most reliable way to diagnose Opitz G/BBB syndrome is through a 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. John M. Opitz. They are different syndromes sharing the name of one busy geneticist.
Opitz G/BBB syndrome includes a variety of midline and bilateral anomalies, or birth defects. This means that structures along a midline (an imaginary line going down through the middle of the body) or two
structures which match on each side of the body, can be affected. Most frequently these include wide-set eyes and other features (hypertelorism), an abnormal opening in the penis in males (hypospadias), mild to severe swallowing defects (dysphagia), an abnormality of the anal opening, undescended testes (cryptorchidism), and a variety of clefts (a fissure, or split in the lip, palate, uvula, esophagus, larynx or trachea). The fibrous band of tissue in the brain that interconnects the two hemispheres may never have formed before birth (agenesis of the corpus callosum, or ACC).

Affected individuals have a distinctive facial appearance. The head (skull) may be out of proportion or asymmetrical. The skull may grow slowly. Some have large heads, while others have small heads. The
hairline may come to a point in the front on the forehead ("widow's peak"). In addition to wide-set eyes and clefts, there may also be skin folds (epicanthic) on the inside corners of the eyes. The eyes may be
crossed (strabismus). There may be some problems with the tear ducts. The ears may be small and/or low-set and may be rotated slightly backward. The outside of the ears (auricles) may be shaped differently.
Children with Opitz G/BBB syndrome often have small ear canals. Often the sinuses are malformed. There may be a flat nasal bridge. The nose may be wide and may have small and upturned nostrils. The mouth could
have clefts or a thin upper lip. Inside the mouth there may be a high palate. The bottom of the tongue may be attached too closely to the gum (short lingual frenulum). The teeth may be crowded or have abnormal
placement. Some teeth may be missing. There may be a small chin or lower jaw.
Individuals who have Opitz G/BBB may have swallowingdifficulties. This is called "dysphagia" and may involve the voice (larynx), windpipe (trachea), and throat (esophagus) which leads to the stomach. Many children with dysphagia cannot swallow safely. They may not use their tongues or chew properly. Food may go into the windpipe instead of the esophagus. This is called choking, or aspirating. Aspiration can cause damage to the lungs and pneumonia. It can prevent oxygen from reaching the brain and may be responsible for mental
deficiencies. It is important to prevent aspirations as death may occur in severely affected infants either at birth or in early infancy. There may be a small stomach. Some have reflux or acholasia where
stomach contents go back up into the esophagus and then to the lungs. Another problem which can also be involved in the throat is the windpipe, or trachea, itself. Individuals may have what is called tracheomalacia. The trachea can be "soft" and not able to hold itself open fully. It can collapse when the individual breathes. The person may have a wheezing, hoarse, or weak voice. Some individuals sound like they are snoring. This is called “stridor” and can be mistaken for asthma. (Individuals who have hypotonia and who also have tracheomalacia need to use an incredible amount of energy to breathe.) Some have webs connecting the trachea and esophagus, and some have clefts (openings) of the esophagus leading into the trachea. Often
infants who have Opitz G/BBB are small and diagnosed as "failure to thrive." They gain weight slowly.
The chest may be caved in (pectus excavatum) or pointed out (pectus carinatum). The body may have a variety of hernias. There can be a variety of congenital heart and kidney defects. Skin may be dry and have some abnormal pigmentation, birthmarks or moles. Boys may have an abnormal opening in the penis (hypospadias), undescended testes (cryptorchidism) and chordee. Girls may have abnormal genitalia (splayed labia majora). Both boys and girls may have a malformation of the anal opening and sometimes imperforate anus. There may be a deep hole at the tip of the tailbone above the buttocks (sacral dimple). Often there is constipation. Some defects of the skeletal/muscular system include backbone (vertebral) anomalies. Many individuals have a crocked backbone, a condition called scoliosis. There may be a short neck. The sternum may be affected. Feet may be flat with crowded toes. Toes and fingers may be a different size or shape, be a bent, or "crowded." Hands may have a single transverse flexion crease in one or both hands. Reduced muscle tone is common, often referred to as congenital or cerebral hypotonia.
There may be some central nervous system defects. There may be sensorineural deafness. Mild mental deficiency is seen in many cases and may be complicated by aspirations due to dysphagia. The brain can become damaged without oxygen when the individual is aspirating. Some individuals have seizures and some display some autistic-like behaviors. There are often delays in speech and physical (psychomotor) skills.

Families also frequently report:
a variety of seizures
autistic-like behaviors
oral defensiveness
scoliosis as a complication of hypotonia
frequent ear, sinus or adenoid infections
human growth deficiency
ambiguous genitalia
mild to severe constipation
behavioral challenges
learning disabilities