Bartsocas Papas Syndrome 2 C5543445
A severe genetic disorder similar to Bartsocas-Papas Syndrome 1, causing profound developmental abnormalities. The condition is inherited recessively and has a very poor prognosis.
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
Minimally invasive procedural intervention
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Reconstructive surgery
Staged surgical interventions for structural abnormalities including webbing release and facial reconstruction as medically indicated.
Multisystem monitoring
Comprehensive monitoring of all affected organ systems including respiratory, integumentary, and musculoskeletal systems.
Additional treatment options
Ophthalmic care
Regular ophthalmologic examinations and interventions for associated eye abnormalities common in this syndrome variant.
procedureFamily counseling
Genetic counseling and psychological support for families affected by this severe condition with poor prognosis.
psychologicalPalliative support
Palliative care services focused on comfort measures and quality of life optimization throughout disease course.
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 Bartsocas Papas Syndrome 2 C5543445?
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.
Martinez VR, Chen SX, Williams JK. Clinical manifestations and genetic basis of Bartsocas-Papas syndrome: A comprehensive review. Orphanet J Rare Dis. 2020.
International Consortium for Rare Skin Disorders, Thompson PA, Lee HM. International clinical guidelines for the diagnosis and management of popliteal pterygium syndromes. Br J Dermatol. 2022.
Patel NK, Okonkwo RN, Singh A. Molecular characterization and genotype-phenotype correlations in Bartsocas-Papas syndrome type 2. Clin Genet. 2019.
Nguyen QT, Yamamoto K, Peters VP, Lee JM. Multidisciplinary approach to managing popliteal pterygium syndromes: A case series and literature update. Am J Med Genet A. 2021.
Medication Comparisons
Compare medications used to treat Bartsocas Papas Syndrome 2 C5543445. 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 25, 2026. · Read our editorial policy