Overview
Dysmorphism-cleft palate-loose skin syndrome is an extremely rare genetic condition that affects multiple parts of the body. It is sometimes referred to by its Orphanet designation (ORPHA:1779). The syndrome is characterized by a combination of unusual facial features (dysmorphism), an opening in the roof of the mouth (cleft palate), and abnormally loose or stretchy skin. Children born with this condition may also have growth delays, intellectual disability, and skeletal abnormalities. The loose skin can resemble conditions like cutis laxa, where the skin hangs in folds and lacks normal elasticity. Facial features may include a flat midface, widely spaced eyes, and a broad or flat nasal bridge. Because this syndrome is so rare, with very few cases described in the medical literature, the full range of symptoms and the underlying genetic cause are not yet completely understood. Treatment is supportive and focuses on managing individual symptoms. Surgical repair of the cleft palate is typically performed in infancy to help with feeding and speech development. Other therapies may include physical therapy, developmental support, and monitoring by multiple specialists. There is currently no cure or disease-specific treatment available.
Key symptoms:
Cleft palate (opening in the roof of the mouth)Loose or saggy skinUnusual facial featuresWidely spaced eyesFlat or broad nasal bridgeGrowth delay or short statureIntellectual disability or developmental delayJoint hypermobility (overly flexible joints)Skeletal abnormalitiesFeeding difficulties in infancySpeech delayLow muscle tone
Clinical phenotype terms (12)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Dysmorphism-cleft palate-loose skin syndrome.
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Specialists
View all specialists →No specialists are currently listed for Dysmorphism-cleft palate-loose skin 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 Dysmorphism-cleft palate-loose skin syndrome.
Community
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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 specific features does my child have that led to this diagnosis?,Should we pursue genetic testing such as whole exome sequencing to confirm the diagnosis?,When should cleft palate repair surgery be scheduled, and what can we expect?,What therapies should we start now to support my child's development?,Are there other conditions that look similar that we should rule out?,How often should my child be seen by each specialist?,Are there any research studies or registries we can participate in?
Common questions about Dysmorphism-cleft palate-loose skin syndrome
What is Dysmorphism-cleft palate-loose skin syndrome?
Dysmorphism-cleft palate-loose skin syndrome is an extremely rare genetic condition that affects multiple parts of the body. It is sometimes referred to by its Orphanet designation (ORPHA:1779). The syndrome is characterized by a combination of unusual facial features (dysmorphism), an opening in the roof of the mouth (cleft palate), and abnormally loose or stretchy skin. Children born with this condition may also have growth delays, intellectual disability, and skeletal abnormalities. The loose skin can resemble conditions like cutis laxa, where the skin hangs in folds and lacks normal elasti
How is Dysmorphism-cleft palate-loose skin syndrome inherited?
Dysmorphism-cleft palate-loose skin syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dysmorphism-cleft palate-loose skin syndrome typically begin?
Typical onset of Dysmorphism-cleft palate-loose skin syndrome is neonatal. Age of onset can vary across affected individuals.