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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bannayan-Riley-Ruvalcaba syndrome


Other Names for this Disease

  • Bannayan-Zonana syndrome
  • BRRS
  • BZS
  • Macrocephaly multiple lipomas and hemangiomata
  • Macrocephaly pseudopapilledema and multiple hemangiomas
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Symptoms

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What are the signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome?

The characteristic features of BRRS are macrocephaly (larger than normal sized head), intestinal polyposis (multiple benign polyps in the intestines), lipomas (tumors below the skin made up of fatty tissue), and pigmented skin lesion (macule) in the area of the penis called the glans penis. Other common features of BRRS include high birth weight, developmental delay, mental deficiency, myopathy (problems with the tone and contraction of skeletal muscles [muscles that control voluntary movements]) of the proximal muscles (click here to view diagram of the location of proximal muscles), joint hyperextensibility (unusually large range of joint movement), pectus excavatum (sunken chest), and scoliosis.[1]
Last updated: 3/18/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Bannayan-Riley-Ruvalcaba 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)
Abnormality of the penis 90%
Arteriovenous malformation 90%
Cavernous hemangioma 90%
Hypermelanotic macule 90%
Intestinal polyposis 90%
Macrocephaly 90%
Multiple lipomas 90%
Muscular hypotonia 90%
Neurological speech impairment 90%
Visceral angiomatosis 90%
Cognitive impairment 50%
Gastrointestinal hemorrhage 50%
Joint hypermobility 50%
Neoplasm of the breast 50%
Obesity 50%
Pectus excavatum 50%
Scoliosis 50%
Uterine neoplasm 50%
Abdominal pain 7.5%
Abnormality of coagulation 7.5%
Abnormality of the metacarpal bones 7.5%
Abnormality of the palate 7.5%
Abnormality of thumb phalanx 7.5%
Acanthosis nigricans 7.5%
Anteverted nares 7.5%
Aortic dilatation 7.5%
Autism 7.5%
Cafe-au-lait spot 7.5%
Coronary artery disease 7.5%
Cutis marmorata 7.5%
Decreased body weight 7.5%
Dolichocephaly 7.5%
Frontal bossing 7.5%
Hypoglycemia 7.5%
Intestinal obstruction 7.5%
Intracranial hemorrhage 7.5%
Long philtrum 7.5%
Lymphedema 7.5%
Macrotia 7.5%
Meningioma 7.5%
Micrognathia 7.5%
Muscle weakness 7.5%
Myopathy 7.5%
Neoplasm of the adrenal cortex 7.5%
Neoplasm of the thyroid gland 7.5%
Optic atrophy 7.5%
Renal neoplasm 7.5%
Seizures 7.5%
Short nose 7.5%
Short stature 7.5%
Skeletal dysplasia 7.5%
Strabismus 7.5%
Tall stature 7.5%
Teleangiectasia of the skin 7.5%
Thyroiditis 7.5%
Visual impairment 7.5%
Abnormally prominent line of Schwalbe -
Amblyopia -
Angiokeratoma -
Autosomal dominant inheritance -
Birth length greater than 97th percentile -
Delayed gross motor development -
Delayed speech and language development -
Enlarged penis -
Hamartomatous polyps -
Hashimoto thyroiditis -
Hemangioma -
Hematochezia -
High palate -
Intellectual disability -
Intussusception -
Juvenile onset -
Lipoma -
Postnatal growth retardation -
Pseudopapilledema -
Supernumerary nipple -
Thick corpus callosum -

Last updated: 12/1/2014

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. Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. April 2012; http://www.ncbi.nlm.nih.gov/books/NBK1488/. Accessed 3/18/2013.


Other Names for this Disease
  • Bannayan-Zonana syndrome
  • BRRS
  • BZS
  • Macrocephaly multiple lipomas and hemangiomata
  • Macrocephaly pseudopapilledema and multiple hemangiomas
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.