Overview
Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome was a term previously used to describe an extremely rare condition characterized by a combination of shortened limbs (brachymelia), fluid-filled cysts in the kidneys (polycystic kidney disease), and heart defects present at birth (congenital heart defects). This condition was considered lethal, meaning it typically resulted in death before or shortly after birth. The term is now classified as 'OBSOLETE' in medical databases such as Orphanet, which means it is no longer recognized as a distinct disease entity. It may have been reclassified, merged with another condition, or determined to overlap with other known skeletal-renal-cardiac syndromes. Patients or families who were previously given this diagnosis should speak with a clinical geneticist to determine whether a more current and specific diagnosis applies to their situation. With advances in genetic testing, many conditions that were once grouped together based on physical features alone have since been separated into distinct genetic disorders with clearer causes and management strategies. Because this term is obsolete, there is very limited information available about specific treatments, and management would have been supportive and symptom-based.
Also known as:
Key symptoms:
Shortened limbs (short arms and legs)Cysts in the kidneys (polycystic kidneys)Heart defects present at birthAbnormal bone developmentPossible breathing difficulties at birthPossible kidney failurePossible stillbirth or death shortly after birth
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect 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 OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect 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.Is there a more current or specific diagnosis that applies to our situation?,What genetic testing should we pursue to better understand the cause?,What is the chance this could happen again in a future pregnancy?,Are there any prenatal tests that can detect this condition early in pregnancy?,Can you refer us to a genetic counselor for family planning guidance?,Are there any support groups for families who have experienced a similar loss?,Has this condition been reclassified under a different name?
Common questions about OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome
What is OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome?
Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome was a term previously used to describe an extremely rare condition characterized by a combination of shortened limbs (brachymelia), fluid-filled cysts in the kidneys (polycystic kidney disease), and heart defects present at birth (congenital heart defects). This condition was considered lethal, meaning it typically resulted in death before or shortly after birth. The term is now classified as 'OBSOLETE' in medical databases such as Orphanet, which means it is no longer recognized as a distinct disease entity. It may
At what age does OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome typically begin?
Typical onset of OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome is neonatal. Age of onset can vary across affected individuals.