What is BBB syndrome?
Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing.
What is Opitz G BBB?
Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. “G/BBB” represents the first letters of the last names of the families first diagnosed with this disorder and “Opitz” is the last name of the doctor who first described the signs and symptoms.
Is aarskog Syndrome a disability?
The intellectual development of people with Aarskog-Scott syndrome varies widely. Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.
What are the symptoms of aarskog syndrome?
Symptoms
- Belly button that sticks out.
- Bulge in the groin or scrotum.
- Delayed sexual maturity.
- Delayed teeth.
- Downward palpebral slant to eyes (palpebral slant is the direction of the slant from the outer to inner corner of the eye)
- Hairline with a “widow’s peak”
- Mildly sunken chest.
- Mild to moderate mental problems.
How many people have aarskog Scott syndrome?
Affected Populations An estimated population prevalence of Aarskog syndrome is equal to or slightly lower than to 1/25,000.
What is the cause of aarskog syndrome?
Causes. Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called “faciogenital dysplasia” (FGD1).
Why is it called Costello Syndrome?
Costello syndrome happens because of a change (mutation) in a gene called the HRAS gene. The mutation makes cells grow and divide more than they should. Everyone has two copies of the HRAS gene. It only takes one changed gene to cause Costello syndrome.