Overview
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: polyneuropathy (damage to nerves throughout the body, especially in the hands and feet), intellectual disability (difficulty with learning and thinking), acromicria (unusually small hands and feet), and premature menopause (early loss of menstrual periods and fertility in women, typically before age 40). This syndrome belongs to a group of conditions classified under multiple congenital anomalies. People with this condition may experience numbness, tingling, or pain in their hands and feet due to nerve damage. They may also have learning difficulties that range from mild to moderate. The small size of the hands and feet is usually noticeable from childhood. Women with this syndrome often experience early menopause, which can affect their ability to have children and may lead to other hormonal changes such as bone thinning. Because this syndrome is so rare, there is no specific cure or targeted treatment available. Management focuses on addressing each symptom individually. This may include medications for nerve pain, educational support for intellectual disability, hormone replacement therapy for premature menopause, and regular monitoring by a team of specialists. Early diagnosis and coordinated care can help improve quality of life for affected individuals.
Also known as:
Key symptoms:
Numbness or tingling in hands and feetPain in the hands and feetMuscle weakness in the arms and legsUnusually small handsUnusually small feetIntellectual disability or learning difficultiesEarly menopause in women (before age 40)Reduced fertilityDifficulty with balance or coordinationShort statureHot flashes and hormonal changes related to early menopauseDifficulty with fine motor tasks
Clinical phenotype terms (15)— 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 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome.
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Specialists
View all specialists →No specialists are currently listed for Polyneuropathy-intellectual disability-acromicria-premature menopause 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 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What tests do we need to confirm this diagnosis?,Is genetic testing available to identify the exact cause in our family?,What treatments can help manage the nerve pain?,Should hormone replacement therapy be started, and what are the risks and benefits?,What educational or developmental support services should we look into?,How often should we schedule follow-up appointments with each specialist?,Are there any clinical trials or research studies we could participate in?
Common questions about Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
What is Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome?
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: polyneuropathy (damage to nerves throughout the body, especially in the hands and feet), intellectual disability (difficulty with learning and thinking), acromicria (unusually small hands and feet), and premature menopause (early loss of menstrual periods and fertility in women, typically before age 40). This syndrome belongs to a group of conditions classified under multiple congenital anomalies. People
How is Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome inherited?
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome typically begin?
Typical onset of Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is childhood. Age of onset can vary across affected individuals.