Overview
Congenital limbs-face contractures-hypotonia-developmental delay syndrome is a very rare genetic condition that is present from birth. It affects multiple parts of the body, including the limbs, face, muscles, and brain development. The name describes the main features: contractures (stiff, fixed joints that cannot move freely), unusual facial features, low muscle tone (hypotonia), and delays in reaching developmental milestones like sitting, walking, and talking. Children born with this condition often have joints in their arms and legs that are bent or fixed in unusual positions, making movement difficult. Their facial appearance may look different from other family members, and their muscles may feel floppy or weak. Because the brain is also affected, children may take longer to learn new skills, and some may have intellectual disability. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and helping children reach their full potential. This includes physical therapy to improve movement, occupational therapy to help with daily tasks, speech therapy for communication, and special education support. A team of specialists works together to support both the child and their family throughout life.
Also known as:
Key symptoms:
Stiff or fixed joints in the arms and legs (contractures) present at birthLow muscle tone (floppy muscles, also called hypotonia)Unusual facial features such as a small jaw, widely spaced eyes, or a flat nasal bridgeDelays in reaching milestones like sitting, walking, and talkingIntellectual disability or learning difficultiesFeeding difficulties in infancyShort stature or slow growthCurved or abnormally shaped fingers or toesLimited range of motion in multiple jointsPossible breathing difficulties due to weak muscles
Clinical phenotype terms (50)— 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 Congenital limbs-face contractures-hypotonia-developmental delay syndrome.
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Specialists
View all specialists →No specialists are currently listed for Congenital limbs-face contractures-hypotonia-developmental delay 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 Congenital limbs-face contractures-hypotonia-developmental delay 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 genetic tests should my child have, and how long will results take?,Which therapies are most important to start right away, and how often should my child receive them?,Are there any breathing or swallowing concerns I should watch for at home?,What does my child's developmental outlook look like, and what milestones should I realistically expect?,Are there any clinical trials or research studies my child might be eligible for?,How should I coordinate care between all the different specialists my child needs?,Are there patient support groups or family networks for this condition that you can connect us with?
Common questions about Congenital limbs-face contractures-hypotonia-developmental delay syndrome
What is Congenital limbs-face contractures-hypotonia-developmental delay syndrome?
Congenital limbs-face contractures-hypotonia-developmental delay syndrome is a very rare genetic condition that is present from birth. It affects multiple parts of the body, including the limbs, face, muscles, and brain development. The name describes the main features: contractures (stiff, fixed joints that cannot move freely), unusual facial features, low muscle tone (hypotonia), and delays in reaching developmental milestones like sitting, walking, and talking. Children born with this condition often have joints in their arms and legs that are bent or fixed in unusual positions, making mov
How is Congenital limbs-face contractures-hypotonia-developmental delay syndrome inherited?
Congenital limbs-face contractures-hypotonia-developmental delay syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital limbs-face contractures-hypotonia-developmental delay syndrome typically begin?
Typical onset of Congenital limbs-face contractures-hypotonia-developmental delay syndrome is neonatal. Age of onset can vary across affected individuals.