- Biedl-Bardet Syndrome
Other major signs and symptoms of BBS include obesity (which can cause type 2 diabetes, high blood pressure, and abnormally high cholesterol levels); kidney abnormalities; the presence of extra fingers and/or toes (polydactyly); intellectual disability or learning problems; and abnormalities of the genitalia. Most affected males are infertile because they produce reduced amounts of sex hormones. Other characteristics of the condition may include impaired speech; delayed development of motor skills; behavioral problems; and poor coordination. Additional features that have been reported in some people with BBS include distinctive facial features; dental abnormalities; unusually short or fused fingers and/or toes; a partial or complete loss of the sense of smell (anosmia); and abnormalities of the heart, liver and digestive system.
The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Bardet-Biedl syndrome. Genetics Home Reference. September 2013; http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome.