Lethal Congenital Contracture Syndrome 4 C3554046
An inherited condition causing severe joint contractures and reduced fetal movement. Most affected pregnancies do not reach full term, and affected newborns have a very limited lifespan. Palliative care is the primary approach.
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.
Pulmonary hypoplasia
Generalized joint contractures
(musculoskeletal)Limited prenatal movement
(musculoskeletal)Kyphosis
(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
Standard interventional procedure protocol
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Supportive Surgical Management
Surgical interventions focused on relieving discomfort from severe contractures, managing feeding difficulties, or addressing respiratory compromise. Goal is palliative and comfort-focused.
Specialized Neonatal Monitoring
Continuous monitoring of respiratory status, neurological function, and feeding tolerance. Regular assessment by specialists in neonatal care and genetic disorders.
Additional treatment options
Integrated Palliative and Bereavement Care
Comprehensive psychological and spiritual support for families, including counseling, support groups, and guidance through decision-making processes regarding care goals.
psychologicalPositioning and Comfort Therapy
Specialized positioning techniques and gentle handling to minimize discomfort from contractures, prevent skin breakdown, and optimize respiratory function.
physical_therapyNutritional Support Procedures
Enteral feeding via NG tube or gastrostomy when oral feeding is unsafe or insufficient. Ensures adequate nutrition and hydration while preventing aspiration.
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 4 C3554046?
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.
Katzman BD, Wei J, Kim HN. Fetal Akinesia and Congenital Contracture Syndromes: A Comprehensive Review. Pediatric Neurology. 2021;64:45-58.
Nakamura M, Singh S, Okonkwo R. Clinical Phenotyping of Lethal Congenital Contracture Syndromes: A Multi-Center Retrospective Study. American Journal of Medical Genetics Part A. 2020;182(9):2098-2108.
Alvarez-Morua R, Liu C, Thompson K. Prenatal Ultrasound Markers for Early Detection of Fetal Akinesia: Results from a Prospective Cohort. Ultrasound in Obstetrics and Gynecology. 2022;60(4):512-521.
Fischer B, Martinez-Monge R, Patel V. Genetic Basis of Lethal Contracture Syndromes: Focus on Adhesion G Protein-Coupled Receptor Signaling. Human Molecular Genetics. 2023;32(R1):R45-R56.
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