Fuhrmann syndrome

What causes Fuhrmann syndrome?

Fuhrmann syndrome is caused by changes (mutations) in the WNT7A __gene. 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.

Last updated on 05-01-20

How is Fuhrmann syndrome diagnosed?

A diagnosis of Fuhrmann syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. 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.

Last updated on 05-01-20

How is Fuhrmann syndrome inherited?

Fuhrmann syndrome is inherited in an autosomal recessive manner. 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 on 05-01-20

What is the long-term outlook for people affected by Fuhrmann syndrome?

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.

Last updated on 05-01-20

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.

Last updated on 05-01-20

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Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly Online Mendelian Inheritance in Man. May 23, 2016; Reference Link Fuhrmann syndrome Orphanet. September 2006; Reference Link 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. Reference Link Mukhtar K, Matuszczak M, and Bermejo-Sanchez E. Anesthesia recommendations for patients suffering from phocomelia Orphan Anesthesia. November 2013; Reference Link 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. Reference Link 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. Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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