Overview
CADDS stands for Cornelia de Lange syndrome-like phenotype with Absent Dermatoglyphics and Severe developmental delay. It is an extremely rare genetic condition caused by changes (mutations) in the SMARCB1 gene or sometimes described in relation to chromosome 22q11 region abnormalities. CADDS affects multiple body systems and is present from birth. Children with CADDS typically have distinctive facial features that may resemble Cornelia de Lange syndrome, including arched eyebrows, a small nose, and a thin upper lip. A hallmark feature is the absence of fingerprints (dermatoglyphics), which are the tiny ridges on the fingers and palms. Affected children experience severe intellectual disability and significant delays in reaching developmental milestones such as sitting, walking, and talking. Growth is often poor, and many children are small for their age. Other features can include limb abnormalities, feeding difficulties, and organ malformations. Because CADDS is so rare, there is no specific cure. Treatment focuses on managing individual symptoms through supportive care, therapies, and close monitoring by a team of specialists. Early intervention with physical therapy, occupational therapy, and speech therapy can help maximize each child's abilities. The long-term outlook varies depending on the severity of symptoms and which organs are affected.
Also known as:
Key symptoms:
Severe developmental delayIntellectual disabilityAbsent fingerprints (no dermatoglyphics)Distinctive facial features resembling Cornelia de Lange syndromePoor growth and short statureFeeding difficultiesSmall head size (microcephaly)Limb abnormalitiesThin upper lipArched eyebrowsSmall nose with upturned tipLow muscle tone (hypotonia)Organ malformationsDelayed or absent speech
Clinical phenotype terms (17)— 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 CADDS.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for CADDS at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for CADDS.
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 CADDS.
Community
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Start the conversation →Latest news about CADDS
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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.What specific genetic change does my child have, and what does it mean for their health?,What organs should be checked regularly, and how often?,What therapies should we start right away to support my child's development?,Are there any clinical trials or research studies my child might be eligible for?,What feeding strategies or supports would you recommend?,What emergency signs should I watch for at home?,Can you connect us with other families affected by CADDS or similar conditions?
Common questions about CADDS
What is CADDS?
CADDS stands for Cornelia de Lange syndrome-like phenotype with Absent Dermatoglyphics and Severe developmental delay. It is an extremely rare genetic condition caused by changes (mutations) in the SMARCB1 gene or sometimes described in relation to chromosome 22q11 region abnormalities. CADDS affects multiple body systems and is present from birth. Children with CADDS typically have distinctive facial features that may resemble Cornelia de Lange syndrome, including arched eyebrows, a small nose, and a thin upper lip. A hallmark feature is the absence of fingerprints (dermatoglyphics), which ar
How is CADDS inherited?
CADDS follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does CADDS typically begin?
Typical onset of CADDS is neonatal. Age of onset can vary across affected individuals.