Overview
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: moyamoya angiopathy (a progressive narrowing of blood vessels in the brain), short stature, distinctive facial features, and hypergonadotropic hypogonadism (a condition where the sex glands do not work properly, leading to problems with puberty and fertility). This syndrome is sometimes linked to other names describing overlapping features. The moyamoya component is particularly concerning because the narrowing of brain arteries can lead to strokes, transient ischemic attacks (mini-strokes), headaches, and seizures. Short stature is usually noticeable from early childhood. Facial features may include a broad nasal bridge, widely spaced eyes, and other subtle differences. The hormonal component means that affected individuals may experience delayed or absent puberty and may need hormone replacement therapy. Treatment is mainly supportive and focused on managing each symptom. Surgical procedures such as revascularization surgery may be considered for the moyamoya component to improve blood flow to the brain. Hormone replacement therapy can help address the hypogonadism. Growth hormone therapy may be considered for short stature. Regular monitoring by a team of specialists is essential to manage this complex condition and prevent serious complications like stroke.
Key symptoms:
Narrowing of blood vessels in the brain (moyamoya)Short stature or growth delayDistinctive facial featuresDelayed or absent pubertyHeadachesSeizuresStroke or mini-strokesInfertility or reduced fertilityWidely spaced eyesBroad nasal bridgeCognitive difficulties or learning problemsWeakness on one side of the bodySpeech difficultiesFatigue
Clinical phenotype terms (27)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome.
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the moyamoya angiopathy, and is surgery recommended at this time?,What are the warning signs of a stroke that I should watch for?,When should hormone replacement therapy be started for puberty?,Is growth hormone therapy appropriate for my child's short stature?,Are there any activities or situations my child should avoid to reduce stroke risk?,What genetic testing should be done, and should other family members be tested?,How often should brain imaging and hormone levels be monitored?
Common questions about Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
What is Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome?
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: moyamoya angiopathy (a progressive narrowing of blood vessels in the brain), short stature, distinctive facial features, and hypergonadotropic hypogonadism (a condition where the sex glands do not work properly, leading to problems with puberty and fertility). This syndrome is sometimes linked to other names describing overlapping features. The moyamoya component is particularly concerning
How is Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome inherited?
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome typically begin?
Typical onset of Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome is childhood. Age of onset can vary across affected individuals.