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Van Den Ende Gupta Syndrome

Table of Contents

Van Den Ende Gupta Syndrome

VDEGS; Marden-Walker-Like Syndrome

Van den Ende-Gupta syndrome (VDEGS) is a rare hereditary disorder that affects the facial features and skeletal system. It is characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Explore symptoms, causes, and genetics of this condition.

Baby Crawling Showing Skeletal System

Image by TheVisualMD

Summary

Blepharophimosis

Image by Grzechocińska, B., Warzecha, D., Wypchło, M. et al./Wikimedia

Blepharophimosis

18-year-old female with blepharophimosis as a result of blepharophimosis, ptosis, epicanthus inversus syndrome

Image by Grzechocińska, B., Warzecha, D., Wypchło, M. et al./Wikimedia

What Is Van Den Ende Gupta Syndrome?

Van den Ende Gupta syndrome is present at birth and affects the facial features and skeletal system. Symptoms of Van den Ende Gupta syndrome include underdeveloped eyelids and jaw bones; long and bent fingers; cleft palate; and other bone abnormalities. Intelligence is average. Very little is known about how this condition changes over time. Van den Ende Gupta syndrome is caused by a SCARF2 gene that is not working correctly. It is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical examination, imaging studies and confirmed by genetic testing. Treatment is focused on managing the symptoms. Surgery can help correct the underdevelopment of facial features.

Source: Genetic and Rare Diseases (GARD) Information Center

Causes

Genomic variant

Image by National Human Genome Research Institute

Genomic variant

There are roughly 4 to 5 million such genomic variants in an individual’s genome. These variants may be unique to that individual or occur in others as well.

Image by National Human Genome Research Institute

What Causes Van Den Ende Gupta Syndrome?

SCARF2 gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.

Source: Genetic and Rare Diseases (GARD) Information Center

Inheritance

autosomal recessive pattern of inheritance

Image by Thomas Shafee and TheVisualMD

autosomal recessive pattern of inheritance

Newborn autosomal recessive pattern of inheritance

Image by Thomas Shafee and TheVisualMD

How Is Van Den Ende Gupta Syndrome Inherited?

People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Source: Genetic and Rare Diseases (GARD) Information Center

Symptoms

Cleft Lip and Cleft Palate

Image by Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities

Cleft Lip and Cleft Palate

Image by CDC. Original uploader was MooreSvn at en.wikipedia

Image by Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities

What Are the Signs and Symptoms of Van Den Ende Gupta Syndrome?

Symptoms may include:

Underdeveloped eyelids
Underdeveloped jaw bones
Unusual nose
Long fingers
Bent joints
Underdeveloped bones in the feet, shoulders and ribs

Van den Ende Gupta syndrome is present at birth. Intelligence is average. About 40 cases have been reported in the medical literature and little is known about how this condition changes over time.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

Facts about Cleft Lip and Cleft Palate

Illustration of Cleft Palate

Image by CDC. Original uploader was MooreSvn at en.wikipedia

Facts about Cleft Lip and Cleft Palate

CDC. Original uploader was MooreSvn at en.wikipedia

Diagnosis

Genetic testing

Image by genome.gov

Genetic testing

Genetic testing fact sheet

Image by genome.gov

How Is Van Den Ende Gupta Syndrome Diagnosed?

Van den Ende Gupta syndrome is diagnosed based on the symptoms, clinical exam, imaging studies, and confirmed by genetic testing.

Source: Genetic and Rare Diseases (GARD) Information Center

Genetic Testing

Genetic Testing

Also called: DNA Testing, Mutation Screening, Genetic Test

Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

Genetic Testing

Also called: DNA Testing, Mutation Screening, Genetic Test

Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

{"label":"Genetic Test Reference Range","scale":"lin","step":0.25,"hideunits":true,"items":[{"flag":"negative","label":{"short":"Negative","long":"Negative","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"A negative result means that the test did not find a genetic change known to cause disease. ","conditions":[]},{"flag":"borderline","label":{"short":"Uncertain","long":"Uncertain","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"An uncertain result means that a variant of unknown or uncertain significance means there isn\u2019t enough information about that genetic change to determine whether it is benign (normal) or pathogenic (disease causing).","conditions":[]},{"flag":"positive","label":{"short":"Positive","long":"Positive","orientation":"horizontal"},"values":{"min":2,"max":3},"text":"A positive result means that the test found a genetic change known to cause disease.","conditions":[]}],"value":0.5}[{"negative":0},{"borderline":0},{"positive":0}]
Use the slider below to see how your results affect your health.
Your result is Negative.
A negative result means that the test did not find a genetic change known to cause disease.
Related conditions
Genetic testing may be done for many different reasons, including to:
- Find genetic diseases in unborn babies. This is one type of prenatal testing.
- Screen newborn babies for certain treatable conditions
- Lower the risk of genetic diseases in embryos that were created using assisted reproductive technology
- Find out if you carry a gene for a certain disease that could be passed on to your children. This is called carrier testing.
- See whether you are at increased risk of developing a specific disease. This may be done for a disease that runs in your family.
- Diagnose certain diseases
- Identify genetic changes that may be causing or contributing to a disease that you were already diagnosed with
- Figure out how severe a disease is
- Help guide your doctor in deciding the best medicine and dosage for you. This is called pharmacogenomic testing.
There are no known risks to having a saliva test. There is very little risk to having a blood test. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
The physical risks of the different types of genetic testing are small. But there can be emotional, social, or financial drawbacks:
- Depending on the results, you may feel angry, depressed, anxious, or guilty. This can be especially true if you are diagnosed with a disease that does not have effective treatments.
- You may be worried about genetic discrimination in employment or insurance
- Genetic testing may give you limited information about a genetic disease. For example, it cannot tell you whether you will have symptoms, how severe a disease might be, or whether a disease will get worse over time.
- Some genetic tests are expensive, and health insurance might only cover part of the cost. Or they may not cover it at all.
- Positive – the test found a genetic change known to cause disease.
- Negative – the test did not find a genetic change known to cause disease. Sometimes a negative result occurs when the wrong test was ordered or there isn’t a genetic cause for that person’s symptoms. A “true negative” is when there is a known genetic change in the family and the person tested did not inherit it. If your test results are negative and there is no known genetic change in your family, a negative test result may not give you a definite answer. This is because you might not have been tested for the genetic change that runs in your family.
- Uncertain – a variant of unknown or uncertain significance means there isn’t enough information about that genetic change to determine whether it is benign (normal) or pathogenic (disease causing).
1. Genetic Testing | CDC. Sep 23, 2022 [accessed on Feb 23, 2022]
2. Genetic Testing: MedlinePlus. National Library of Medicine. Jun 11, 2021 [accessed on Feb 23, 2022]
3. What is genetic testing?: MedlinePlus Genetics [accessed on Feb 23, 2022]
4. Genetic Testing FAQ. Genome.gov [accessed on Feb 23, 2022]
5. Genetic testing and your cancer risk: MedlinePlus Medical Encyclopedia [accessed on Feb 23, 2022]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (21)

Genetic testing

Genetic testing fact sheet

Image by genome.gov

Genetic testing

Genetic testing existed before the Human Genome Project and the list of diseases that we can already screen for may be longer than you think.

Image by TheVisualMD

Genes and Genetic Defects

Genetic testing isn't new. In the 1960s, doctors were able to test newborn babies for certain rare single-gene disorders, such as phenylketonuria (PKU), a rare metabolic disease that causes mental retardation. (PKU can be prevented with a special diet if it's detected early, which was why it was critical to test newborns.)

Image by TheVisualMD

Mapping Your Future: Screening for Disease Risk

Image by TheVisualMD

Each person with Down syndrome has different talents and the ability to thrive.

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

Image by CDC

genetic analysis

Biotechnology - DNA analysis and treatment

Image by OpenClipart-Vectors/Pixabay

Family history (medicine)

An extended family in Spain

Image by Ojedamd

Biotechnology

This diagram shows the basic method used for extraction of DNA.

Image by CNX Openstax

Genetic Counselor at Sanford Health Explains the Benefits to Genetic Testing

Video by Sanford Health/YouTube

What Is A Genetic Counselor & The Importance of Genetic Counselling | Ambry Genetics

Video by Ambry Genetics/YouTube

How Does The Genetic Testing Process Work? Genetic Testing FAQ | Ambry Genetics

Video by Ambry Genetics/YouTube

Should You Get Genetic Testing During Your Pregnancy?

Video by St. Louis Children's Hospital/YouTube

Debating Embryonic Genetic Testing -- The Doctors

Video by The Doctors/YouTube

Genetic Testing for Cancer — AMITA Health | NBC Chicago Ask the Doc

Video by AMITA Health/YouTube

MedGenome BRCA - Breast Cancer Genetic Testing

Video by MedGenome/YouTube

Genetic Testing for Hereditary Forms of Kidney Cancer - Brian Shuch, MD

Video by UCLA Health/YouTube

Do I need Genetic Testing for Ichthyosis?

Video by foundation for ichthyosis/YouTube

What Is Genetic Testing? Understanding the Process and Its Results

Video by uvahealth/YouTube

How to Understand Your Genetic Testing Results

Video by Breast Cancer Answers®/YouTube

Genetic Testing 101 for People with Rare Diseases

Video by National Organization for Rare Disorders (NORD)/YouTube

What's the difference between genetic and genomic testing?

Video by Cancer Treatment Centers of America - CTCA/YouTube

Genetic testing

genome.gov

Genetic testing

TheVisualMD

Genes and Genetic Defects

TheVisualMD

Mapping Your Future: Screening for Disease Risk

TheVisualMD

Each person with Down syndrome has different talents and the ability to thrive.

CDC

genetic analysis

OpenClipart-Vectors/Pixabay

Family history (medicine)

Ojedamd

Biotechnology

CNX Openstax

1:57

Genetic Counselor at Sanford Health Explains the Benefits to Genetic Testing

Sanford Health/YouTube

1:06

What Is A Genetic Counselor & The Importance of Genetic Counselling | Ambry Genetics

Ambry Genetics/YouTube

0:45

How Does The Genetic Testing Process Work? Genetic Testing FAQ | Ambry Genetics

Ambry Genetics/YouTube

3:04

Should You Get Genetic Testing During Your Pregnancy?

St. Louis Children's Hospital/YouTube

4:40

Debating Embryonic Genetic Testing -- The Doctors

The Doctors/YouTube

1:31

Genetic Testing for Cancer — AMITA Health | NBC Chicago Ask the Doc

AMITA Health/YouTube

2:10

MedGenome BRCA - Breast Cancer Genetic Testing

MedGenome/YouTube

1:37

Genetic Testing for Hereditary Forms of Kidney Cancer - Brian Shuch, MD

UCLA Health/YouTube

1:43

Do I need Genetic Testing for Ichthyosis?

foundation for ichthyosis/YouTube

2:01

What Is Genetic Testing? Understanding the Process and Its Results

uvahealth/YouTube

3:58

How to Understand Your Genetic Testing Results

Breast Cancer Answers®/YouTube

1:00:31

Genetic Testing 101 for People with Rare Diseases

National Organization for Rare Disorders (NORD)/YouTube

2:05

What's the difference between genetic and genomic testing?

Cancer Treatment Centers of America - CTCA/YouTube

Treatment

Treatment and Prognosis varies depending on the type of condition and the age of symptom onset.

Image by 4144132

Treatment and Prognosis varies depending on the type of condition and the age of symptom onset.

Prognosis varies depending on the type of MND and the age of symptom onset.

Image by 4144132

How Might Van Den Ende Gupta Syndrome Be Treated?

Specialists involved in the care of someone of Van den Ende Gupta syndrome may include:

Radiologist
Orthopedist
Maxillofacial surgeon

Source: Genetic and Rare Diseases (GARD) Information Center

Statistics

Unknown (película)

Image by Diseñadores publicitarios/Wikimedia

Unknown (película)

Logo de «Unknown».

Image by Diseñadores publicitarios/Wikimedia

How Common Is Van Den Ende Gupta Syndrome?

The exact number of people with Van den Ende Gupta syndrome is unknown. There have been about 40 cases of this condition reported in the medical literature.

Source: Genetic and Rare Diseases (GARD) Information Center

Related HealthJournals

Genetic Testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Over 2000 tests are available. Genetic testing may be done for many reasons, from newborn baby screening to diagnosing certain diseases. Read about why you might consider testing.

Genetic Counseling

Genetic counseling provides support to people who have, or may be at risk for, genetic disorders. There are many reasons to seek genetic counseling. Learn more about these reasons and what to expect.

Genetic Disorders

A mutation in a person's genes can cause a medical condition called a genetic disorder. Learn more about the types of genetic disorders and how they're diagnosed.

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Van Den Ende Gupta Syndrome

Van den Ende-Gupta syndrome (VDEGS) is a rare hereditary disorder that affects the facial features and skeletal system. It is characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Explore symptoms, causes, and genetics of this condition.

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