Overview
Kallmann syndrome-heart disease syndrome is an extremely rare condition that combines features of Kallmann syndrome with congenital heart defects. Kallmann syndrome itself is a condition where the body does not produce enough gonadotropin-releasing hormone (GnRH), which leads to delayed or absent puberty and a reduced or absent sense of smell (called anosmia or hyposmia). In this particular syndrome, these hormonal and smell-related problems occur alongside structural heart abnormalities that are present from birth. People with this condition may notice that puberty does not start on its own, and they may have difficulty detecting odors. The heart defects can vary in type and severity, and may include problems with the heart's structure such as septal defects or other congenital malformations. Some individuals may also have additional features such as hearing loss or other developmental differences. Treatment typically involves hormone replacement therapy to bring on puberty and support normal sexual development and bone health. Heart defects may require monitoring by a cardiologist, and in some cases, surgical correction may be needed. Because this syndrome is so rare, management is usually coordinated by a team of specialists who tailor treatment to each person's specific combination of symptoms. Early diagnosis and intervention can significantly improve quality of life and long-term outcomes.
Key symptoms:
Delayed or absent pubertyReduced or absent sense of smellCongenital heart defectsUnderdeveloped genitaliaInfertility or reduced fertilityAbsent or irregular menstrual periods in femalesSmall testes in malesPossible hearing lossLow sex hormone levelsPossible cleft lip or palatePossible kidney abnormalities
Clinical phenotype terms (29)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Kallmann syndrome-heart disease syndrome.
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Specialists
View all specialists →No specialists are currently listed for Kallmann syndrome-heart disease 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 Kallmann syndrome-heart disease syndrome.
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Caregiver Resources
NORD Caregiver Resources
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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 type of heart defect does my child or I have, and how severe is it?,When should hormone replacement therapy be started, and what are the options?,Will fertility be possible in the future, and what treatments might help?,How often do we need cardiac check-ups and hormone level monitoring?,Are there any physical activities or sports that should be avoided?,Should other family members be tested for this condition?,What genetic testing is recommended, and what can the results tell us?
Common questions about Kallmann syndrome-heart disease syndrome
What is Kallmann syndrome-heart disease syndrome?
Kallmann syndrome-heart disease syndrome is an extremely rare condition that combines features of Kallmann syndrome with congenital heart defects. Kallmann syndrome itself is a condition where the body does not produce enough gonadotropin-releasing hormone (GnRH), which leads to delayed or absent puberty and a reduced or absent sense of smell (called anosmia or hyposmia). In this particular syndrome, these hormonal and smell-related problems occur alongside structural heart abnormalities that are present from birth. People with this condition may notice that puberty does not start on its own,