Living with Congenital nonprogressive myopathy with Moebius and Robin sequences
A rare genetic condition with low muscle tone, facial weakness, a small jaw, and cleft palate from birth.
Understanding Congenital nonprogressive myopathy with Moebius and Robin sequences
It combines low muscle tone, weak facial muscles with limited eye movement outward (Moebius sequence), and a small jaw, tongue placed far back, and high or cleft palate (Pierre-Robin sequence). People also have unusual facial features and slower growth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Weak facial muscles (facial palsy)
- Small lower jaw (micrognathia)
- Cleft or high palate
- Slow growth
- Intellectual disability
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 brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: 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 CFZ Syndrome 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
GARD says changes in genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: carey fineman ziter syndrome; carey-fineman-ziter syndrome; myopathy-moebius-robin syndrome
Patient organizations
- CFZ SyndromeCongenital nonprogressive myopathy with Moebius and Robin sequences · 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 Congenital nonprogressive myopathy with Moebius and Robin sequences.
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