Segmental Outgrowth-lipomatosis-arteriovenous Malformation-epidermal Nevus Syndrome

Table of contents:

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

Description

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.

Genes related to Segmental Outgrowth-lipomatosis-arteriovenous Malformation-epidermal Nevus Syndrome

PTEN

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Clinical Features

Top most frequent phenotypes and symptoms related to Segmental Outgrowth-lipomatosis-arteriovenous Malformation-epidermal Nevus Syndrome

Macrocephaly
Congestive heart failure
Papule
Talipes
Recurrent fractures
Subcutaneous nodule
Reduced bone mineral density
Hemiplegia/hemiparesis
Hamartoma
Ovarian neoplasm

And another 9 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

Segmental Outgrowth-lipomatosis-arteriovenous Malformation-epidermal Nevus Syndrome Is also known as solamen 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.

Segmental Outgrowth-lipomatosis-arteriovenous Malformation-epidermal Nevus 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 Rare Disease Search Engine

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