Living with Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
A very rare inherited syndrome with narrowed brain blood vessels (moyamoya), short stature, facial differences, and underactive reproductive glands.
Understanding Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
It combines moyamoya disease, in which blood vessels in the brain narrow, with short stature that starts after birth and a characteristic facial look. People also have hypergonadotropic hypogonadism, in which the reproductive glands do not work as they should. It can show up at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Narrowed brain blood vessels (moyamoya)
- Stroke or bleeding in the brain
- Short stature
- Delayed puberty
- Cataracts
- Premature graying of hair
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, genetic specialists, hormone 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility 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 Moyamoya Foundation 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 syndrome. GARD lists X-linked inheritance, which means the gene is on the X chromosome.
Also known as: chromosome xq28 deletion syndrome, 3.4-kb; moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism; moyamoya disease 4, x-linked recessive; moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; syndromic moyamoya disease
Patient organizations
- Moyamoya FoundationMoyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome.
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