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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bardet-Biedl syndrome


Other Names for this Disease

  • BBS
  • Biedl-Bardet Syndrome
  • Laurence Moon Bardet Biedl syndrome
  • Laurence Moon syndrome
  • LMBBS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Bardet-Biedl syndrome?

Bardet-Biedl syndrome (BBS) affects many parts of the body, and signs and symptoms of the condition can vary among affected individuals. One of the major features of BBS is progressive vision loss due to deterioration of the retina. Typically, this begins in mid-childhood with problems with night vision and is followed by the development of blind spots in the peripheral vision. These blind spots become bigger with time and eventually merge to produce tunnel vision. Most individuals also develop blurred central vision and become legally blind by adolescence or early adulthood.[1]

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 other abnormalities.[1]
Last updated: 10/3/2011

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.

Signs and Symptoms Approximate number of patients (when available)
Retinal dystrophy 100%
Abnormality of the kidney 95%
Abnormal electroretinogram 90%
Abnormal retinal pigmentation 90%
Cognitive impairment 90%
Multicystic kidney dysplasia 90%
Obesity 90%
Postaxial hand polydactyly 90%
Decreased testicular size 88%
Micropenis 88%
Delayed speech and language development 77%
Myopia 75%
Astigmatism 63%
Hypertension 60%
Nystagmus 52%
Brachydactyly syndrome 50%
Hypoplasia of penis 50%
Polycystic ovaries 50%
Short stature 50%
Cataract 30%
Congenital primary aphakia 30%
Asthma 25%
Gait imbalance 25%
Intellectual disability 25%
Poor coordination 25%
Syndactyly 25%
Glaucoma 22%
Retinitis pigmentosa 8%
Abnormality of the ovary 7.5%
Ataxia 7.5%
Biliary tract abnormality 7.5%
Cryptorchidism 7.5%
Diabetes mellitus 7.5%
Downslanted palpebral fissures 7.5%
Finger syndactyly 7.5%
Hearing impairment 7.5%
Hepatic failure 7.5%
Hepatic fibrosis 7.5%
Hirsutism 7.5%
Hypertrichosis 7.5%
Low-set, posteriorly rotated ears 7.5%
Macrocephaly 7.5%
Medial flaring of the eyebrow 7.5%
Nephrotic syndrome 7.5%
Neurological speech impairment 7.5%
Prominent nasal bridge 7.5%
Radial deviation of finger 7.5%
Short neck 7.5%
Vaginal atresia 7.5%
Aganglionic megacolon -
Autosomal recessive inheritance -
Broad foot -
Dental crowding -
Foot polydactyly -
High palate -
Hypodontia -
Hypogonadism -
Left ventricular hypertrophy -
Nephrogenic diabetes insipidus -
Short foot -
Specific learning disability -
Strabismus -

Last updated: 11/3/2014

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.


References
  1. Bardet-Biedl syndrome. Genetics Home Reference. May 2010; http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome. Accessed 10/3/2011.


Other Names for this Disease
  • BBS
  • Biedl-Bardet Syndrome
  • Laurence Moon Bardet Biedl syndrome
  • Laurence Moon syndrome
  • LMBBS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.