Living with Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
A rare nerve condition that combines facial paralysis, nerve damage in the arms and legs, and underactive reproductive glands.
Understanding Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Moebius syndrome means facial weakness present from birth along with eye movement problems. This syndrome adds nerve damage in the arms and legs (peripheral axonal neuropathy) and hypogonadotropic hypogonadism, in which the reproductive glands are underactive due to low hormone signals. GARD notes there have been no further descriptions in the medical literature since 1996.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Facial paralysis and an expressionless face
- Weakness of the eye muscles
- Eyes that turn (strabismus)
- Nerve damage in the arms and legs
- Underactive reproductive glands (hypogonadism)
- Club feet
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 genetic specialists, hormone specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association, Pituitary Network Association
- 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 Resolve: The National Infertility Association 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 genes (also called variants) cause this condition. GARD does not list the specific gene.
Also known as: moebius axonal neuropathy hypogonadism; moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type; moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome.
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