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.

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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.


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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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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