Overview
Cleft lip/palate-deafness-sacral lipoma syndrome is an extremely rare genetic condition that involves a combination of birth defects affecting several parts of the body. The main features include a cleft lip (a split in the upper lip) and/or cleft palate (an opening in the roof of the mouth), hearing loss (deafness), and a sacral lipoma, which is a fatty lump located near the base of the spine (the sacral area). Because these features are present from birth, the condition is typically recognized in the newborn period or early infancy. This syndrome was first described in a small number of families, and very few cases have been reported in the medical literature. The combination of these three specific features together distinguishes it from other conditions that may include cleft lip or palate alone. Some affected individuals may also have additional minor abnormalities. Treatment is focused on managing each symptom individually. Cleft lip and palate can be repaired through surgery, usually performed in the first year of life. Hearing loss may be addressed with hearing aids or other assistive devices, and the sacral lipoma may require monitoring or surgical removal if it causes symptoms such as pain or pressure on nearby nerves. A team of specialists is typically involved in the care of affected individuals to address the various aspects of this condition. There is currently no cure that addresses the underlying cause of the syndrome.
Key symptoms:
Cleft lip (a split in the upper lip)Cleft palate (an opening in the roof of the mouth)Hearing loss or deafnessFatty lump at the base of the spine (sacral lipoma)Feeding difficulties in infancySpeech difficultiesEar infectionsPossible nerve-related symptoms from the spinal lipoma
Clinical phenotype terms (12)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Cleft lip/palate-deafness-sacral lipoma syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cleft lip/palate-deafness-sacral lipoma 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 Cleft lip/palate-deafness-sacral lipoma 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 is the recommended timeline for cleft lip and palate repair surgeries?,What type and degree of hearing loss does my child have, and what are the best options for hearing support?,Does the sacral lipoma need to be removed, or can it be safely monitored?,Should we pursue genetic testing, and what would the results mean for our family?,What therapies (speech, feeding, etc.) should we start, and how often?,Are there any signs of complications I should watch for at home?,Is there a risk that future children could also be affected?
Common questions about Cleft lip/palate-deafness-sacral lipoma syndrome
What is Cleft lip/palate-deafness-sacral lipoma syndrome?
Cleft lip/palate-deafness-sacral lipoma syndrome is an extremely rare genetic condition that involves a combination of birth defects affecting several parts of the body. The main features include a cleft lip (a split in the upper lip) and/or cleft palate (an opening in the roof of the mouth), hearing loss (deafness), and a sacral lipoma, which is a fatty lump located near the base of the spine (the sacral area). Because these features are present from birth, the condition is typically recognized in the newborn period or early infancy. This syndrome was first described in a small number of fam
How is Cleft lip/palate-deafness-sacral lipoma syndrome inherited?
Cleft lip/palate-deafness-sacral lipoma syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cleft lip/palate-deafness-sacral lipoma syndrome typically begin?
Typical onset of Cleft lip/palate-deafness-sacral lipoma syndrome is neonatal. Age of onset can vary across affected individuals.