Lawrence-Moon-Bardet-Biedl Syndrome

Lawrence-Moon-Bardet-Biedl syndrome is a rare genetic disease characterized by a combination of obesity, mental retardation, polydactyly (excessive number of fingers and toes), hypogonadism (underdevelopment of the gonads) and other anomalies.

The syndrome is named after four doctors who contributed to its study:

1. John Zachary Lawrence (J.Z. Laurence, 1830-1874) - English ophthalmologist, described a case of a combination of obesity, mental retardation and eye abnormalities.

2. Robert Charles Moon (R.C. Moon, 1844-1914) - American ophthalmologist, described a similar case in 1887.

3. Georges Louis Bardet (G. Bardet, 1885-?) - French pediatrician, in 1920 described a combination of obesity, polydactyly and mental retardation.

4. Arthur Biedl (A. Biedl, 1869-1933) - Czech pathologist, in 1922 proposed the concept of a single syndrome combining these symptoms.

The syndrome is extremely rare, its prevalence is 1 case per 100,000-150,000 newborns. The reason is mutations in several different genes associated with ciliary cell function. Treatment is mainly symptomatic and aimed at correcting individual manifestations. The prognosis depends on the severity of damage to individual organs and systems.

Lawrence Moon Barde Bilde Syndrome is a severe hereditary disease characterized by dwarfism syndrome and multiple skeletal deformities. The three syndromes were first discovered simultaneously in sick children in 1924. Lawrence - a combination of lung disease and heart defects. Moon - cleft lip. Bardeta - a change in bone structure. Bildl - deformed knees and feet.