Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies; Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Fuhrmann syndrome is caused by
In some cases, doctors have found differences in the brains of people who have Fuhrmann syndrome when they look at them upon
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.
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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Aplasia/Hypoplasia of the fibula||
Absent/small calf bone
Absent/underdeveloped calf bone
[ more ]
|Aplasia/Hypoplasia of the ulna||
Absence/underdevelopment of inner forearm bone
|Hypoplasia of the radius||
Underdeveloped outer large forearm bone
Bowing of outer large bone of the forearm
|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 ]
|Aplasia/Hypoplasia of metatarsal bones||
Absent/small long bone of foot
Absent/underdeveloped long bone of foot
[ more ]
|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 ]
|Aplasia/hypoplasia of the femur||
[ more ]
Dislocated hip since birth
Hand has less than 5 fingers
|Hypoplastic iliac wing||0002866|
|Postaxial hand polydactyly||
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
Decreased body height
[ more ]
[ more ]
[ more ]
|Ulnar deviation of finger||
Finger bends toward pinky
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
Abnormal absence of menstruation
|Aplasia/Hypoplasia of the phalanges of the hand||0009767|
Permanent curving of the finger
Absent calf bone
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.
Another syndrome called Al-Awadi-Raas-Rothschild syndrome is also caused by
- 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.
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.
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.
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.
- 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.
- 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; https://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. https://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.