• INCLUSION CRITERIA:

We are using previously published clinical diagnostic criteria for BBS to determine study eligibility of probands. As outlined in that report, we will include patients who present with four of the five primary features and two secondary features. Parents are also enrolled for genetic studies.

The initial determination of eligibility is made by review of prior clinical records. Some patients are not characterized in sufficient detail to know if the person meets the clinical criteria, yet we may suspect the diagnosis. In those cases, the subjects are brought to NIH and undergo clinically appropriate testing to make the diagnosis. If that clinical testing does not confirm the diagnosis, the patients or parents are given appropriate clinical counseling and returned to the care of their personal physician. If features later develop that allow the diagnosis to be made, they may re-enroll and undergo further evaluation.

Our study population includes patients of all ages and ethnic groups, and both genders. The inclusion of children is essential to a research study that is correlating genotype with phenotype, and is attempting an early identification of metabolic abnormalities that may be best treated at an early age. Many of the age-dependent manifestations of BBS develop during childhood and the average age of diagnosis is 9.2 years. Pregnant women and children under the age of 5 yrs do not undergo invasive research procedures or procedures involving ionizing radiation unless that procedure would be performed as part of standard medical care.

Because cognitive dysfunction is known to be a component of BBS, some patients with impaired cognition and understanding may be evaluated under this protocol. We may request that the patient and accompanying caregiver also be interviewed by an independent ethics panel to confirm that he or she is competent to give consent and to participate if the team feels this would be useful.

Under these guidelines (vide supra) we may also include any child (less than 18 yrs) whose parent or legal guardian is unable to understand the informed consent process or to give consent for his/her child, and children older than 7 years who are unable to assent to the study.

EXCLUSION CRITERIA:

Neither healthy volunteers unrelated to an affected patient nor lab personnel will be enrolled.

We are not enrolling unaffected siblings or recruiting control subjects.

If the investigators believe that an adult patient may not be competent to give informed consent to participate, or does not understand the consent document and the procedures of the study, that patient may be excluded from participation.