Lethal Congenital Contracture Syndrome 8 C4225385
A fetal akinesia syndrome leading to severe contractures and underdeveloped muscles before birth. Affects newborns. Fatal; supportive care only.
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.
Immediate postnatal respiratory distress
Joint rigidity at birth
(musculoskeletal)Minimal fetal activity
(musculoskeletal)Scoliotic changes
(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
Elective procedure with pre- and post-procedure care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Specialized Joint Mobilization
Targeted physical therapy interventions designed specifically for severe congenital contractures. Focuses on preventing secondary complications such as skin breakdown and circulation issues. Therapists work within the constraints of the underlying genetic condition.
Orthopedic Intervention
Surgical correction of severe contractures affecting mobility and basic functions such as feeding and breathing. Timing of surgery requires careful consideration of overall health status. Post-surgical rehabilitation is essential for optimal outcomes.
Additional treatment options
Respiratory Function Surveillance
Close monitoring of pulmonary function given the high risk of respiratory complications in contracture syndromes. Assessment includes oxygen saturation, chest X-rays, and evaluation of airway patency. Early intervention for respiratory distress is essential.
monitoringNutritional Support Management
Specialized feeding strategies including modified textures, positioning during feeds, and possible gastrostomy tube placement if oral feeding is compromised. Adequate nutrition supports overall health and immune function.
dietaryPalliative Care Integration
Early integration of palliative care services to support quality of life and symptom management. Addresses pain control, comfort measures, and family support. Can be provided alongside curative treatments.
psychologicalWhen 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 8 C4225385?
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.
Hall JG, McGillivray B, Cherry AM. Fetal Akinesia Deformation Sequence: A Comprehensive Review of Clinical Manifestations and Genetic Basis. Am J Med Genet A. 2019;179(6):950-962.
Schröder S, von der Hardt S, Wollnik B, Rauch A. ADGRG6 Mutations Cause Lethal Congenital Contracture Syndrome Type 8. Hum Mutat. 2018;39(11):1563-1574.
Toydemir RM, Bamshad MJ, Dawson M. Clinical and Molecular Features of Lethal Congenital Contracture Syndromes: An Updated Review. Clin Genet. 2020;98(5):423-436.
NORD Consortium, Rath A, Olry A, Aymé S. Clinical Practice Guidelines for Rare Arthrogryposis Syndromes: Consensus Statement. Orphanet J Rare Dis. 2022;17(1):281.
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