Bannayan-riley-ruvalcaba Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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

Genes related to Bannayan-riley-ruvalcaba Syndrome

PTEN

View recommended genes panels

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.

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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