Fuhrmann syndrome

Title

Other Names:

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

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Musculoskeletal Diseases See More

Summary Summary

Fuhrmann syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of Fuhrmann syndrome are present from birth and may include bowing of the femurs (the upper bones of the legs), having no fibula (lower bone of the leg) or a smaller fibula than usual, and having more fingers or toes than normal (polydactyly) or fewer fingers or toes than normal (oligodactyly).^[1]^[2]

Fuhrmann syndrome is caused by mutations (changes) to the WNT7A gene and is inherited in an autosomal recessive manner.^[1] Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome.^[3] 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.^[4]

Last updated: 8/8/2017

Symptoms Symptoms

Signs and symptoms of Fuhrmann syndrome are present from birth and may include bowing of the femurs (the upper bones of the legs), having no fibula (lower bone of the leg) or a smaller fibula than usual, and having more fingers or toes than normal (polydactyly) or fewer fingers or toes than normal (oligodactyly). Some people with Fuhrmann syndrome may have fingers or toes that are fused together (syndactyly).^[1]^[2] Less commonly, these skeletal differences may be seen in the arms as well as the legs.^[1] Other signs and symptoms associated with Fuhrmann syndrome include an underdeveloped (hypoplastic) pelvis, dislocation of the hips from birth, joints that are unable to bend properly (joint contractures) and hypoplastic fingers or fingernails. Some people with Fuhrmann syndrome have been born with cleft lip and/or palate.^[1]

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).^[1]

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.^[5]

Last updated: 8/8/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia of the fibula	Absent/small calf bone Absent/underdeveloped calf bone [ more ]	0006492
Aplasia/Hypoplasia of the ulna		0006495
Femoral bowing	Bowed thighbone	0002980
Hypoplasia of the radius		0002984
Radial bowing		0002986
30%-79% of people have these symptoms
Abnormal finger flexion creases		0006143
Aplasia/Hypoplasia involving the metacarpal bones	Absent/small long bones of hand Absent/underdeveloped long bones of hand [ more ]	0005914
Aplasia/Hypoplasia of metatarsal bones	Absent/small long bone of foot Absent/underdeveloped long bone of foot [ more ]	0001964
Aplasia/Hypoplasia of the 5th finger	Absent/small little finger Absent/small pinkie finger Absent/small pinky finger Absent/underdeveloped little finger Absent/underdeveloped pinkie finger Absent/underdeveloped pinky finger [ more ]	0006262
Aplasia/hypoplasia of the femur	Absent/small thighbone Absent/underdeveloped thighbone [ more ]	0005613
Congenital hip dislocation	Dislocated hip since birth	0001374
Foot oligodactyly	Missing toes	0001849
Hand oligodactyly		0001180
Hypoplastic iliac wing		0002866
Hypoplastic pelvis		0008839
Patellar aplasia	Absent kneecap	0006443
Postaxial hand polydactyly	Extra little finger Extra pinkie finger Extra pinky finger [ more ]	0001162
Short stature	Decreased body height Small stature [ more ]	0004322
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
Ulnar deviation of finger		0009465
5%-29% of people have these symptoms
Finger syndactyly		0006101
Percent of people who have these symptoms is not available through HPO
Absent toenail		0001802
Amenorrhea	Abnormal absence of menstruation	0000141
Aplasia/Hypoplasia of the phalanges of the hand		0009767
Autosomal recessive inheritance		0000007
Clinodactyly	Permanent curving of the finger	0030084
Fibular aplasia	Absent calf bone	0002990

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Fuhrmann syndrome is caused by changes (mutations) in the WNT7A gene. This gene is responsible for controlling the development of the hands and feet.^[3] When there is a mutation in the WNT7A gene, this gene cannot work properly, which causes the signs and symptoms associated with the syndrome.^[3]

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.^[6]

Last updated: 8/8/2017

Inheritance Inheritance

Fuhrmann syndrome is inherited in an autosomal recessive manner.^[1] This means that both copies of the 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.

Last updated: 8/8/2017

Diagnosis Diagnosis

A diagnosis of Fuhrmann syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome.^[3] Diagnosis can be confirmed by genetic testing that finds two changes in the 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.^[6]

Last updated: 8/8/2017

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

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.^[4]

Last updated: 8/8/2017

Prognosis Prognosis

The long-term outlook for people affected by Fuhrmann syndrome may depend on the signs and symptoms present in each person. Because there are not surgeries available for all of the symptoms associated with the syndrome, people with this syndrome will be affected by the skeletal abnormalities throughout their lives.

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.^[5]

Last updated: 8/8/2017

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The syndrome is allelic to Schinzel phocomelia (or Al-Awadi-Raas-Rothschild syndrome), which results from null mutations in the same gene. Visit the Orphanet disease page for more information.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Arthrogryposis Multiplex Congenita Support Inc.
P.O. Box 6291
Spartanburg, SC 29304
E-mail: bod@amcsupport.org
Website: http://www.amcsupport.org
Little People of America, Inc.
250 El Camino Real, Suite 201
Tustin, CA 92780
Toll-free: 888-572-2001
Telephone: 714-368-3689
Fax: 714-368-3367
E-mail: info@lpaonline.org
Website: http://www.lpaonline.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Fuhrmann syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly. Online Mendelian Inheritance in Man. May 23, 2016; https://www.omim.org/entry/228930.
Fuhrmann syndrome. Orphanet. September 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2854.
Al-Qattan MM, Shamseldin HE, and Alkuraya FS. The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. Gene. March 1, 2013; 516(1):168-170. https://www.ncbi.nlm.nih.gov/pubmed/23266637.
Mukhtar K, Matuszczak M, and Bermejo-Sanchez E. Anesthesia recommendations for patients suffering from phocomelia. Orphan Anesthesia. November 2013; https://www.orpha.net/data/patho/Pro/en/Phocomelia-En.pdf.
Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazili L, and Mundlos S. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia syndrome. American Journal of Human Genetics. August 2006; 79(2):402-408. http://www.cell.com/ajhg/fulltext/S0002-9297(07)63150-4.
Al-Qattan MM. Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.. American Journal of Medical Genetics. September 2013; 161A(9):2274-2280. https://www.ncbi.nlm.nih.gov/pubmed/23922166.