Laurence Moon Bardet Beidl Syndrome
Eye Conditions & Care | Eye Conditions | Laurence Moon Bardet Beidl Syndrome
LMBB Syndrome is a rare, recessively inherited disorder which affects approximately 1 in 100,000 babies born. Recessive genes are those which we carry but do not affect our development. Both men and women are carriers. In order for a child to be affected, both parents must carry the recessive gene. If both parents are carriers, there is a 1 in 4 chance with every pregnancy of passing on both defective genes to the baby, resulting in LMBB Syndrome.
The features of LMBB Syndrome
- Visual impairment, caused by rod-cone dystrophy, a progressive eye condition which is often diagnosed as Retinitis Pigmentosa. It first shows itself as impaired night-vision and can lead to tunnel vision, and ultimately blindness.
- Obesity
- Extra fingers and/or toes and/or partially fused digits
- Underdeveloped genitals in males (hypogenitalism)
- Developmental delay, speech and co-ordination problems, and often, learning difficulties
- Other health problems may occur, most frequently kidney (renal) abnormalities
Not all of the features are always present in children diagnosed as having LMBB Syndrome, and each one can vary in severity and appearance among affected individuals.
Is there a cure?
No. But there is treatment or management for many of the conditions involved.
There is no treatment for rod-cone dystrophy but correct early diagnosis is very important so that those affected can receive assistance for their visual impairment as soon as possible.
Diagnosis
LMBB Syndrome is not very common, so few doctors know much about it. There is no blood test or clinical test to establish the presence of LMBBS in an individual. The earlier diagnosis of LMBB Syndrome can be confirmed, the more effectively the condition can be managed. As yet, there is no way to determine if a person is a carrier for the disorder. Although there is no pre-natal test currently available, it is possible to detect extra digits and certain kidney abnormalities by high definition ultrasound scanning.
Information provided by the Laurence Moon Bardet- Beidl Society.