Overview
Carnevale syndrome is an extremely rare genetic condition that affects multiple body systems, primarily involving skeletal abnormalities, facial features, and other birth differences. It was first described by Dr. Carnevale and colleagues in the medical literature. The condition is sometimes also referred to as Carnevale-Krajewska-Fischetto syndrome or ptosis-skeletal anomalies syndrome. People with Carnevale syndrome may have drooping eyelids (ptosis), unusual facial features, short stature, and various bone and joint abnormalities. Some individuals may also have intellectual disability or developmental delays. Because this syndrome is so rare, with only a handful of cases reported in the medical literature, our understanding of the full range of symptoms and the best approaches to treatment remains limited. There is currently no cure for Carnevale syndrome. Treatment focuses on managing individual symptoms and may involve surgery for skeletal or facial abnormalities, physical therapy, and supportive educational services. A team of specialists is usually needed to address the different aspects of the condition. Early intervention and regular follow-up can help improve quality of life for affected individuals and their families.
Also known as:
Key symptoms:
Drooping eyelids (ptosis)Unusual facial featuresShort statureBone and joint abnormalitiesShort fingers or toesFlat nasal bridgeWidely spaced eyesIntellectual disability or learning difficultiesDelayed developmentLow-set earsThin or sparse hairDental abnormalitiesLimited joint movement
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)
FDA & Trial Timeline
10 eventsJohns Hopkins University — PHASE2
MetroHealth Medical Center — NA
Uniformed Services University of the Health Sciences — PHASE1, PHASE2
Royal Free Hospital NHS Foundation Trust
Seoul National University Bundang Hospital — NA
Istinye University — NA
Beijing Anzhen Hospital
Linkoeping University
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Carnevale syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
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 Carnevale syndrome.
Community
No community posts yet. Be the first to share your experience with Carnevale syndrome.
Start the conversation →Latest news about Carnevale syndrome
Disease timeline:
New recruiting trial: Rescue Pharmacotherapy for OSA
A new clinical trial is recruiting patients for Carnevale syndrome
New recruiting trial: Phototherapy for Non-responders to Oral Appliance Therapy for Obstructive Sleep Apnea
A new clinical trial is recruiting patients for Carnevale syndrome
New recruiting trial: Patients with Coronary Artery Disease or At High Cardiovascular Risk: Measuring Compliance with Treatment for Obstructive Sleep Apnea Syndrome
A new clinical trial is recruiting patients for Carnevale syndrome
New recruiting trial: Mini-dose Dexmedetomidine-Esketamine Supplemented Analgesia in Patients at High-risk of OSA
A new clinical trial is recruiting patients for Carnevale syndrome
New recruiting trial: Ultrasound Assessment of Tongue Characteristics in Children and Adolescents With Obesity
A new clinical trial is recruiting patients for Carnevale syndrome
New recruiting trial: Multidimensional Evaluation of Patients' Affected by Obstructive Apnea Syndrome (OSAS) Before and After Ventilotherapy
A new clinical trial is recruiting patients for Carnevale syndrome
New recruiting trial: Study to Examine the Effect of Silicone Mouth Tape on Snoring and Mild Sleep Apnea.
A new clinical trial is recruiting patients for Carnevale syndrome
New recruiting trial: Belun Ring Platform With an Improved Algorithm for OSA Assessment
A new clinical trial is recruiting patients for Carnevale syndrome
New recruiting trial: Effects of Frequency Adjustment in Functional Electrical Stimulation on Genioglossus Muscle Activity
A new clinical trial is recruiting patients for Carnevale syndrome
New recruiting trial: Conventional CPAP Airsense 10 VS Portable Air-Mini CPAP For Obstructive Sleep Apnea (CASPAM)
A new clinical trial is recruiting patients for Carnevale syndrome
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.What specific features of Carnevale syndrome does my child have, and how severe are they?,Should we pursue genetic testing such as whole exome sequencing to look for a cause?,Is surgery recommended for the drooping eyelids, and when is the best time to do it?,What therapies (physical, occupational, speech) would benefit my child?,How often should we schedule follow-up visits and with which specialists?,Are there any complications we should watch for as my child grows?,Can you connect us with a genetic counselor to discuss family planning and recurrence risk?
Common questions about Carnevale syndrome
What is Carnevale syndrome?
Carnevale syndrome is an extremely rare genetic condition that affects multiple body systems, primarily involving skeletal abnormalities, facial features, and other birth differences. It was first described by Dr. Carnevale and colleagues in the medical literature. The condition is sometimes also referred to as Carnevale-Krajewska-Fischetto syndrome or ptosis-skeletal anomalies syndrome. People with Carnevale syndrome may have drooping eyelids (ptosis), unusual facial features, short stature, and various bone and joint abnormalities. Some individuals may also have intellectual disability or de
How is Carnevale syndrome inherited?
Carnevale syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Carnevale syndrome typically begin?
Typical onset of Carnevale syndrome is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Carnevale syndrome?
Yes — 1 recruiting clinical trial is currently listed for Carnevale syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Carnevale syndrome?
25 specialists and care centers treating Carnevale syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.