Symptoms
The symptoms of Laurence-Moon-Bardet-Biedl syndrome may include:- Primary symptoms (most common in the syndrome)
- Visual impairment caused by rod-cone dystrophy, often diagnosed as retinitis pigmentosa
- Extra fingers and/or toes (polydactyly)
- Obesity
- Learning disabilities
- Underdeveloped genitals in males (hypogonadism)
- Kidney abnormalities
- Secondary symptoms (may also occur)
- Delayed development
- Speech problems
- Poor coordination, clumsiness
- Type 2 diabetes
- Difficulty controlling muscles (ataxia)
Diagnosis
Diagnosis of Laurence-Moon-Bardet-Biedl syndrome is based on the child's symptoms. These may be present at birth or may become noticeable as the child grows. For diagnosis, four primary symptoms should be present, or three primary plus two secondary symptoms. There is no specific test to detect the presence of LMBBS.Treatment
Treatment of LMBBS is focused on the symptoms. One of the most important areas is dealing with visual impairment. Although there is as yet no treatment that can prevent or reverse the loss of sight, there are many ways of adapting to having poor eyesight.Another important problem in LMBBS is obesity. If not controlled, it can lead to many health problems such as Type 2 diabetes. A dietician can help establish a healthy diet that along with exercise can help the child or adult with LMBBS maintain a healthy weight.
Other interventions may focus on the developmental delays, learning disabilities, and speech problems present in LMBBS.
Sources:
"LMBBS - More Than Meets The Eye." 14 Nov 2004. Laurence Moon Bardet Biedl Society. 4 Dec 2007.
"First Bardet-Biedl Syndrome Gene Identified." Research News. 28 Aug 2000. Howard Hughes Medical Institute. 4 Dec 2007.
