Fuhrmann syndrome

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

Fuhrmann syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia.

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. 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.

Inheritance

Autosomal recessive inheritance, a 25% chance

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.

Signs and 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).Less commonly, these skeletal differences may be seen in the arms as well as the legs. 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. 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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Aplasia/Hypoplasia of the fibula(Absent/small calf bone
• Aplasia/Hypoplasia of the ulna(Absence/underdevelopment of inner forearm bone)
• Femoral bowing(Bowed thighbone)
• Hypoplasia of the radius(Underdeveloped outer large forearm bone)
• Radial bowing(Bowing of outer large bone of the forearm)

30%-79% of people have these symptoms

• Abnormal finger flexion creases
• Aplasia/Hypoplasia involving the metacarpal bones(Absent/small long bones of hand)
• Aplasia/Hypoplasia of metatarsal bones(Absent/small long bone of foot)
• Aplasia/Hypoplasia of the 5th finger(Absent/small little finger)
• Aplasia/hypoplasia of the femur(Absent/small thighbone)
• Congenital hip dislocation(Dislocated hip since birth)
• Foot oligodactyly(Missing toes)
• Hand oligodactyly(Hand has less than 5 fingers)
• Hypoplastic iliac wing
• Hypoplastic pelvis
• Patellar aplasia(Absent kneecap)
• Postaxial hand polydactyly(Extra little finger)
• Short stature(Decreased body height)
• Talipes equinovarus(Club feet)
• Toe syndactyly(Fused toes)
• Ulnar deviation of finger(Finger bends toward pinky)

5%-29% of people have these symptoms

• Finger syndactyly

Diagnosis

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.

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.

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.

NIH genetic and rare disease info

• NIH info on Fuhrmann syndrome

Fuhrmann syndrome is a rare disease.

Fuhrmann syndrome Resources
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