Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

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Overview

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome is an extremely rare condition that combines three main problems affecting different parts of the body. First, Moebius syndrome causes weakness or paralysis of the facial nerves, which means people with this condition often cannot move their face normally — they may have trouble smiling, frowning, blinking, or moving their eyes side to side. Second, axonal neuropathy means the long nerve fibers (axons) that carry signals to the arms and legs are damaged, leading to numbness, tingling, muscle weakness, and difficulty with coordination, especially in the hands and feet. Third, hypogonadotropic hypogonadism is a hormonal problem where the brain does not produce enough signaling hormones (called gonadotropins) to stimulate the sex glands properly. This leads to delayed or absent puberty, and can affect fertility. The condition is present from birth or early childhood. Because it affects multiple body systems — the nervous system, the hormonal system, and facial movement — patients typically need care from several different specialists. Treatment focuses on managing each component of the syndrome individually, as there is currently no cure. Hormone replacement therapy can address the hypogonadism, while physical therapy and supportive care help manage the neuropathy and facial weakness.

Key symptoms:

Inability to move the face or make facial expressionsDifficulty moving the eyes side to sideTrouble closing the eyes completelyFeeding difficulties in infancyNumbness or tingling in hands and feetMuscle weakness in the arms and legsPoor balance and coordinationDelayed or absent pubertyUnderdeveloped sexual characteristicsReduced or absent sense of smell in some casesSpeech difficultiesDrooling due to poor facial muscle controlMuscle wasting in the lower legs or handsInfertility or reduced fertility

Clinical phenotype terms (15)— hover any for plain English
Movement abnormality of the tongueHP:0000182External ophthalmoplegiaHP:0000544Bilateral talipes equinovarusHP:0001776Demyelinating peripheral neuropathyHP:0007108Facial paralysisHP:0007209Decreased corneal reflexHP:0008000Abnormality of jaw musclesHP:0045037
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome.

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No actively recruiting trials found for Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome at this time.

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No specialists are currently listed for Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is the nerve damage, and is it likely to get worse over time?,When should hormone replacement therapy be started, and what are the options?,What surgical options exist to improve facial movement or eye closure?,What therapies can help maintain strength and function in the arms and legs?,Will my child be able to have children in the future with treatment?,Should genetic testing be done for family members?,What specialists should be part of the care team, and how often should we see them?

Common questions about Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

What is Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome?

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome is an extremely rare condition that combines three main problems affecting different parts of the body. First, Moebius syndrome causes weakness or paralysis of the facial nerves, which means people with this condition often cannot move their face normally — they may have trouble smiling, frowning, blinking, or moving their eyes side to side. Second, axonal neuropathy means the long nerve fibers (axons) that carry signals to the arms and legs are damaged, leading to numbness, tingling, muscle weakness, and difficulty with

At what age does Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome typically begin?

Typical onset of Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome is neonatal. Age of onset can vary across affected individuals.