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Fuhrmann Syndrome

Table of Contents

Fuhrmann Syndrome

Bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies; Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly

Fuhrmann syndrome is a very rare genetic syndrome characterized by skeletal abnormalities that are present from birth. This may include bowing of the femurs (the upper leg bones), having no fibula (lower leg bones) or a smaller fibula than usual, and having more of fewer fingers and toes than usual. Learn about the causes and treatment of Fuhrmann syndrome.

Infant Skeleton

Image by Internet Archive Book Images

Summary

Image from page 320 of "Living anatomy and pathology;" (1910)

Image by Internet Archive Book Images

Image from page 320 of "Living anatomy and pathology;" (1910)

Image by Internet Archive Book Images

What Is Fuhrmann Syndrome?

Fuhrmann syndrome is caused by mutations (changes) to the WNT7Agene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. The diagnosis can be confirmed by genetic testing. Treatment for Fuhrmann syndrome depends on the specific symptoms of each affected person, but may include surgical options.

Source: Genetic and Rare Diseases (GARD) Information Center

Symptoms

Bow leg

Image by Hellerhoff

Bow leg

Whole leg image with a malposition in the sense of a genu varum (bow leg) with severe, correspondingly primarily medial gonarthrosis. The Mikulicz line is drawn from the center of the femoral head to the center of the talar roll and the lateral displacement of the center of the knee joint.

Image by Hellerhoff

What Are the Signs and Symptoms of Fuhrmann Syndrome?

In some cases, doctors have found differences in the brains of people who have Fuhrmann syndrome when they look at them upon imaging. The brain differences can include a cerebellum that is not in the usual location and having smaller than typical folds in the brain (microgyria).

The signs and symptoms associated with Fuhrmann syndrome can be different from person to person within members of the same family and between different families affected by the syndrome.

Source: Genetic and Rare Diseases (GARD) Information Center

Cause

Mutation

Image by National Human Genome Research Institute (NHGRI)

Mutation

A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.

Image by National Human Genome Research Institute (NHGRI)

What Causes Fuhrmann Syndrome?

WNT7Agene. This gene is responsible for controlling the development of the hands and feet. When there is a mutation in the WNT7A gene, this gene cannot work properly, which causes the signs and symptoms associated with the syndrome.

Fuhrmann syndrome is very similar to another syndrome known as Al-Awadi-Raas-Rothschild syndrome. However, the genetic mutations that cause Fuhrmann syndrome only result in partial loss of the function of the gene. The genetic mutations that cause Al-Awadi-Raas-Rothschild syndrome result in complete loss of function of the gene.Therefore, the symptoms associated with Fuhrmann syndrome tend to be more mild than those associated with Al-Awadi-Raas-Rothschild syndrome.

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 Fuhrmann Syndrome Inherited?

WNT7A gene must be changed in order to have symptoms of the syndrome. We inherit one copy of each gene from our mother and the other from our father.

People with a mutation in only one copy of the WNT7A gene are known as carriers. When two carriers of Fuhrmann syndrome have children together, for each child there is a:

25% chance that the child will have Fuhrmann syndrome
50% chance that the child will be a carrier of Fuhrmann syndrome like the parents
25% chance that the child will have two working copies of WNT7A, so the child will not have Fuhrmann syndrome and will not be a carrier.

Source: Genetic and Rare Diseases (GARD) Information Center

Diagnosis

Genetic testing

Image by genome.gov

Genetic testing

Genetic testing fact sheet

Image by genome.gov

How Is Fuhrmann Syndrome Diagnosed?

WNT7A gene.

Another syndrome called Al-Awadi-Raas-Rothschild syndrome is also caused by mutations to the WNT7A gene. In some cases, the exact same genetic change can cause one syndrome in one person and the other syndrome in another person. Therefore, diagnosis of these syndromes should be made based on the clinical features of each individual person.

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

Surgery in operating room

Image by sasint/Pixabay

Surgery in operating room

Image by sasint/Pixabay

How Might Fuhrmann Syndrome Be Treated?

The treatment recommended for people affected by Fuhrmann syndrome will depend on the signs and symptoms present in each person. Some of the skeletal changes associated with Fuhrmann syndrome may be corrected with surgery. However, there are not surgeries available for all of the signs and symptoms associated with Fuhrmann syndrome.

Source: Genetic and Rare Diseases (GARD) Information Center

Prognosis

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

What Is the Long-Term Outlook for People with Fuhrmann Syndrome?

Fuhrmann syndrome is not known to affect when a person goes into puberty or his or her ability to have children. People with Fuhrmann syndrome typically have normal intelligence.

Source: Genetic and Rare Diseases (GARD) Information Center

Related HealthJournals

Skeletal System

The major functions of the bones are body support, facilitation of movement, protection of internal organs, storage of minerals and fat, and hematopoiesis.

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.

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.

Inheriting Genetic Conditions

Some diseases are caused by mutations that are inherited from the parents and are present in an individual at birth. Concerned about passing on a genetic disorder? Explore a list of questions and answers related to inheriting genetic conditions.

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Fuhrmann Syndrome

Fuhrmann syndrome is a very rare genetic syndrome characterized by skeletal abnormalities that are present from birth. This may include bowing of the femurs (the upper leg bones), having no fibula (lower leg bones) or a smaller fibula than usual, and having more of fewer fingers and toes than usual. Learn about the causes and treatment of Fuhrmann syndrome.

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