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Disease Profile
Bannayan-Riley-Ruvalcaba syndrome
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.
Unknown
Age of onset
Infancy
ICD-10
Q87.8
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
Other names (AKA)
BRRS; Riley-Smith syndrome; Macrocephaly multiple lipomas and hemangiomata;
Categories
Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;
Summary
Bannayan-Riley-Ruvalcaba
Symptoms
Symptoms may include:[1][2][3]
- Large head size (macrocephaly)
- Increased birth weight,
Intellectual disability Autism spectrum disorder- Benign skin
tumors :- Hair follicle tumors (trichilemmomas)
- Raised bumps on tongue and gums (oral papillomas)
- Fatty tumors (lipomas)
- Growths in the colon (colon polyps)
- Dark colored freckles on the penis (macular pigmentation)
- Increased risk for
cancer , especially thyroid, breast, uterine, and kidney
People with BRRS may be born with a large head and increased birth weight. Childhood symptoms may include
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
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Abnormal large intestine morphology |
Abnormality of the large intestine
|
0002250 | |
Arteriovenous malformation | 0100026 | ||
Capillary hemangioma |
Strawberry birthmark
|
0005306 | |
Hamartomatous polyposis | 0004390 | ||
Intestinal polyposis | 0200008 | ||
Irregular hyperpigmentation | 0007400 | ||
Lipoma |
Fatty lump
Noncancerous fatty lump
[ more ] |
0012032 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 | |
Neoplasm of the breast |
Breast tumor
Tumours of the breast
[ more ] |
0100013 | |
Nevus |
Mole
|
0003764 | |
Decreased body height
Small stature
[ more ] |
0004322 | ||
Visceral angiomatosis | 0100761 | ||
30%-79% of people have these symptoms | |||
Pectus excavatum |
Funnel chest
|
0000767 | |
0002650 | |||
Subcutaneous hemorrhage |
Bleeding below the skin
|
0001933 | |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 | |
5%-29% of people have these symptoms | |||
Abdominal wall muscle weakness | 0009023 | ||
Abnormality of the optic nerve |
Optic nerve issue
|
0000587 | |
Angina pectoris | 0001681 | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 | |
Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 | |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 | |
Cachexia |
Wasting syndrome
|
0004326 | |
Cutis marmorata | 0000965 | ||
Delayed gross motor development |
Delayed motor skills
|
0002194 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 | |
Frontal bossing | 0002007 | ||
Hashimoto thyroiditis | 0000872 | ||
Low blood sugar
|
0001943 | ||
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intracranial hemorrhage |
Bleeding within the skull
|
0002170 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 | |
Long philtrum | 0000343 | ||
Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 | |
Lymphoma |
Cancer of lymphatic system
|
0002665 | |
Macrotia |
Large ears
|
0000400 | |
Meningioma | 0002858 | ||
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | ||
Multiple cafe-au-lait spots | 0007565 | ||
Muscular |
Low or weak muscle tone
|
0001252 | |
Myopathy |
Muscle tissue disease
|
0003198 | |
Narrow palate |
Narrow roof of mouth
|
0000189 | |
Neoplasm of the adrenal cortex | 0100641 | ||
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 | |
0001250 | |||
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 | |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 | |
Tall stature |
Increased body height
|
0000098 | |
Telangiectasia | 0001009 | ||
Thyroid carcinoma | 0002890 | ||
Uterine neoplasm |
Uterine tumor
|
0010784 | |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 | |
1%-4% of people have these symptoms | |||
Decreased circulating |
0004313 | ||
Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] |
0001888 | |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
Cause Bannayan-Riley-Ruvalcaba
DiagnosisTesting Resources
Treatment There is no specific treatment for Bannayan-Riley-Ruvalcaba
Specialists who may be involved in the care of people with BRRS include:
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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. Organizations Supporting this Disease
Organizations Providing General Support
Learn moreThese 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. Where to Start
In-Depth Information
References
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