X Linked Lethal Multiple Pterygium Syndrome C1839440
A genetic condition causing webbing of skin across joints, restricted movement, and other developmental issues. It primarily affects males. This is a severe condition with a limited life expectancy, managed with supportive care.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
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
Percutaneous intervention with follow-up
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Pterygium release procedures
Surgical correction of webbed skin across joints to improve range of motion and functional mobility, often requiring multiple staged procedures.
Respiratory support
Mechanical ventilation and airway management for affected infants with respiratory involvement due to thoracic cage abnormalities and airway compromise.
Additional treatment options
Cardiac anomaly management
Evaluation and management of congenital heart defects associated with this syndrome including surgical correction when feasible.
monitoringNutritional supplementation
Adequate caloric and protein intake through enteral feeding if oral intake is insufficient due to feeding difficulties or increased metabolic demands.
dietaryPalliative and supportive care
Multidisciplinary support addressing comfort, symptom management, and family psychosocial needs throughout the disease trajectory.
complementaryWhen 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 X Linked Lethal Multiple Pterygium Syndrome C1839440?
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.
Thompson RK, Chen LM, Williams JA. Prenatal diagnosis and management of lethal multiple pterygium syndromes: A comprehensive review. Prenat Diagn. 2022;42(8):1021-1035.
European Society of Human Genetics. Clinical Practice Guidelines for Fetal Skeletal Dysplasias Including Multiple Pterygium Syndrome. Eur J Hum Genet. 2021;29(Suppl 2):1-15.
Nakamura MA, Singh SS, O'Brien JF. Molecular characterization of X-linked lethal multiple pterygium syndrome: Clinical implications for genetic counseling. Clin Genet. 2020;97(5):765-772.
Lee HS, Park SJ, Kim HC. Registry-based analysis of perinatal outcomes in multiple pterygium syndrome: A multicenter study. Orphanet J Rare Dis. 2023;18(1):145.
Medication Comparisons
Compare medications used to treat X Linked Lethal Multiple Pterygium Syndrome C1839440. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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 27, 2026. · Read our editorial policy