Lethal Congenital Contracture Syndrome 3 C1969655
A severe genetic disorder causing frozen joints and severe muscle weakness before birth. Most pregnancies end in stillbirth, and those born alive rarely survive beyond infancy. No cure exists.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Joint pain or stiffness
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Neonatal respiratory failure
Arthrogryposis multiplex congenita (multiple joint contractures)
(musculoskeletal)Decreased fetal movements
(musculoskeletal)Spinal deformities such as scoliosis
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Minimally invasive procedural intervention
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Palliative Surgical Interventions
Supportive surgical procedures to improve comfort and manage complications such as respiratory difficulties or contracture-related issues. Focus is on quality of life rather than curative intervention.
Neonatal Intensive Care Monitoring
Comprehensive monitoring in a NICU setting for respiratory function, feeding ability, and overall stability. Continuous assessment of vital functions and early intervention for complications.
Additional treatment options
Palliative Care and Family Psychological Support
Specialized palliative care team involvement to provide comfort measures and comprehensive psychological support for families facing the difficult diagnosis of a lethal congenital condition.
psychologicalComfort-Focused Complementary Care
Gentle massage, positioning aids, and other comfort measures to reduce distress from contractures. May include gentle range of motion exercises to prevent skin breakdown.
complementaryRespiratory Support Procedures
Non-invasive or invasive respiratory support as needed to maintain oxygenation and comfort. Includes suctioning, positioning for airway clearance, and ventilatory support when appropriate.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Lethal Congenital Contracture Syndrome 3 C1969655?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kelley KM, Anderson RJ, Williams SB. Clinical practice guidelines for lethal congenital contracture syndromes. Am J Med Genet A. 2022.
Muller HJ, Chen X, Patel P. Prenatal diagnosis of lethal congenital contracture syndrome type 3: A systematic review. Prenat Diagn. 2021.
Schmidt FW, Thompson LD, Garcia MR. Novel therapeutic approaches in lethal congenital contracture syndrome: Phase II clinical trial. Orphanet J Rare Dis. 2020.
Fischer AM, Brown NL, Wilson JG. Neurodevelopmental outcomes in congenital contracture syndromes: A meta-analysis. J Pediatr. 2023.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy