Rare Primary Care News
Disease Profile
Bardet-Biedl syndrome 8
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the kidney |
Abnormal kidney
|
0000077 |
| Abnormality of the ovary |
Abnormality of the ovaries
|
0000137 |
| Allergy | 0012393 | |
| Asthma | 0002099 | |
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
| 0001251 | ||
| 0000007 | ||
| Biliary tract abnormality | 0001080 | |
|
Short fingers or toes
|
0001156 | |
| Broad foot |
Broad feet
Wide foot
[ more ] |
0001769 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
| Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 |
| 0000819 | ||
| Foot |
Duplication of bones of the toes
|
0001829 |
| Gait imbalance |
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk
[ more ] |
0002141 |
| 0000501 | ||
| Global |
0001263 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Hepatic fibrosis | 0001395 | |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
| Hirsutism |
Excessive hairiness
|
0001007 |
| 0000822 | ||
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
|
Decreased activity of gonads
|
0000135 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Left ventricular hypertrophy | 0001712 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
| Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
| Nephrogenic diabetes insipidus | 0009806 | |
| Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Obesity |
Having too much body fat
|
0001513 |
| Poor coordination | 0002370 | |
| Postaxial hand polydactyly |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] |
0001162 |
| Radial deviation of finger | 0009466 | |
| Retinal degeneration |
Retina degeneration
|
0000546 |
| Retinal dystrophy |
Breakdown of light-sensitive cells in back of eye
|
0000556 |
| Rod-cone dystrophy | 0000510 | |
| Short foot |
Short feet
Small feet
[ more ] |
0001773 |
| Specific learning disability | 0001328 | |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
|
Webbed fingers or toes
|
0001159 | |
| Vaginal atresia |
Abnormally closed or absent vagina
|
0000148 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.