Overview
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: extrasystoles (extra or irregular heartbeats), short stature (being significantly shorter than expected for age), hyperpigmentation (darker patches of skin), and microcephaly (a smaller-than-normal head size). This syndrome was first described in a small number of patients, and very little is known about its full range of symptoms and long-term outcomes. People with this condition may experience heart rhythm problems due to the extrasystoles, which can sometimes cause palpitations or a feeling that the heart is skipping beats. The short stature is typically present from early childhood, and the small head size may be associated with some degree of developmental delay or intellectual disability, though this can vary between individuals. The skin hyperpigmentation may appear as darker areas on various parts of the body. Because this syndrome is so rare, there is no specific cure or targeted treatment available. Management focuses on treating individual symptoms. Heart rhythm problems may be monitored by a cardiologist, growth may be tracked by an endocrinologist, and developmental support can be provided as needed. Regular follow-up with multiple specialists is important to address the different aspects of this condition.
Also known as:
Key symptoms:
Irregular or extra heartbeats (palpitations)Short stature or poor growthDarker patches of skin (hyperpigmentation)Smaller than normal head size (microcephaly)Possible developmental delayPossible intellectual disabilityLow birth weightDistinctive facial featuresPossible learning difficulties
Clinical phenotype terms (13)— 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 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Extrasystoles-short stature-hyperpigmentation-microcephaly 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 Extrasystoles-short stature-hyperpigmentation-microcephaly 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.How often should my child's heart rhythm be monitored?,Are the extra heartbeats dangerous, and do they need medication?,What developmental support services should we start?,Should we consider growth hormone therapy for the short stature?,Is genetic testing available to find the exact cause of this condition?,What signs should prompt us to seek emergency care?,Are there other families or support groups for this condition?
Common questions about Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
What is Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome?
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: extrasystoles (extra or irregular heartbeats), short stature (being significantly shorter than expected for age), hyperpigmentation (darker patches of skin), and microcephaly (a smaller-than-normal head size). This syndrome was first described in a small number of patients, and very little is known about its full range of symptoms and long-term outcomes. People with this condition may experience heart rhythm proble
How is Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome inherited?
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome typically begin?
Typical onset of Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is childhood. Age of onset can vary across affected individuals.