Laurence-Moon-Bardet-Biedl syndrome
Laurence-Moon-Bardet-Biedl syndrome Causes
The causes of Laurence-Moon-Bardet-Biedl syndrome can be found in mutated BBS genes located at the cell's cilia and basal body. The mutated gene products cause 'signal malfunctions' in the cilia, which in turn make wrong transport of proteins to the different organs of the body. The lack of the right proteins as well as the delivery of wrong proteins to the organs then cause defects in tissue production as well as detroy the function of the affected body organs.
Laurence-Moon-Bardet-Biedl syndrome Definition
The Laurence-Moon-Bardet-Biedl syndrome, sometimes called Bardet-Biedl synrome, is a rare genetic disorder characterized by mental retardation, hypogonadism, obesity, and renal failure.
Laurence-Moon-Bardet-Biedl syndrome Symptoms and Signs
The disease affects almost all organs of the human body from head to foot. Among the symptoms displayed by the Laurence-Moon-Bardet-Biedl syndrome are retinal abormalities, reduced sense of smell, and webbing of fingers and toes. Fibrosis sometimes occurs in the gastrointestinal system, while organs in the excretory and repropductive systems also experience problems such as urogential sinuses, uterus complex and hypoplasia. Other victims of the disease show signs of mild autism and/or obesity.