diagnosis
Last reviewed 01/2018
Diagnosis
- 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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