the diagnosis of BBS is extremely difficult due the lack of a clinically based genetic test and the varying nature in which the syndrome can present. The syndrome can present in many different ways and many of the presenting features occur in other, more common, diseases. There are six criteria on which BBS can be diagnosed:
retinal degeneration
polydactyly
obesity
learning disabilities
renal problems
genital defects
if there is a suspicion of BBS, or any genetic disorder, then the child should be followed up at regular intervals and investigated for genetic disorders as an appropriate. Due to the lack of a genetic test and the nature of the syndrome diagnosis is often delayed until the end of the first or even the beginning of the second decade of life (1),(2).
BBS is often misdiagnosed as Lawrence-Moon syndrome, Kearns-Sayre syndrome or McKusick-Kaufman syndrome.
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