Bannayan-riley-ruvalcaba Syndrome

Description

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Bannayan-riley-ruvalcaba Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Muscle weakness
  • Muscular hypotonia
  • Skeletal muscle atrophy

And another 48 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Bannayan-riley-ruvalcaba Syndrome Is also known as brrs, myhre-riley-smith syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Bannayan-riley-ruvalcaba Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PTEN Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
PTEN Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
PTEN Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
PTEN Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
PTEN Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
PTEN Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BRCA1, BRCA2, STK11, TP53, CDH1, PALB2, PTEN
Specificity
15 %
Genes
100 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BRCA1, BRCA2, STK11, TP53, CDH1, PALB2, PTEN
Specificity
15 %
Genes
100 %

You can get up to 416 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 MATURITY-ONSET DIABETES OF THE YOUNG; MODY