Living with Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
A rare genetic condition with fused neck bones, weak muscle tone, short height, and distinctive facial features.
Understanding Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
The cervical spine bones are fused (Klippel-Feil anomaly). People have low muscle tone, short stature, and a small head. Facial features include low-set ears, a bulbous nose, a long groove above the lip, a high-arched palate, and a low hairline at the back of the neck. Heart differences and other bone differences are also reported. It is noticed in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fused neck bones (Klippel-Feil anomaly)
- Low muscle tone
- Delayed motor skills
- Short stature
- Small head (microcephaly)
- Webbed neck and low back hairline
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MYO18B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 MYO18B gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: klippel-feil anomaly, myopathy, facial dysmorphism syndrome; klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism; klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome.
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