Living with Fuhrmann syndrome
A very rare genetic bone condition present from birth with bowed thigh bones, a missing or small fibula, and extra or missing fingers or toes.
Understanding Fuhrmann syndrome
Signs may include bowed thigh bones (femurs), a missing or smaller-than-usual fibula, and more or fewer fingers or toes than usual. Diagnosis is made when a doctor sees signs that match the syndrome and can be confirmed by genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bowed thigh bones
- Missing or small fibula
- Missing or underdeveloped ulna
- Extra or missing fingers
- Missing kneecap
- Club feet and hip dislocation
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in WNT7A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Arthrogryposis Multiplex Congenita Support Inc., Little People of America and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Arthrogryposis Multiplex Congenita Support Inc., Little People of America, World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Arthrogryposis Multiplex Congenita Support Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the WNT7A gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly; fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome; fuhrmann rieger de sousa syndrome; fuhrmann-rieger-de sousa syndrome
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Fuhrmann syndrome · United States
- Little People of AmericaFuhrmann syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Fuhrmann syndrome.
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