Bardet-Biedl syndrome

Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition.

Clinical presentation

The clinical spectrum includes:

• retinal anomalies: similar to that of retinitis pigmentosa
• intellectual disability
• renal structural anomalies  
• polydactyly: often post-axial
• obesity: often truncal
• hypogonadism: in males

History and etymology

It is named after:

• Arthur Biedl (1869-1933): Romano-Hungarian pathologist 
• Georges Bardet: French physician

Siehe auch:

• Polydaktylie

und weiter:

• angeborene renale Anomalien
• postaxiale Polydaktylie