Meckel Syndrome Type 4 C1970161
A genetic disorder causing severe developmental abnormalities including brain defects and polycystic kidneys. It is inherited and typically fatal shortly after birth.
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.
Neonatal Intensive Care Monitoring
Comprehensive physiological monitoring in a specialized NICU setting to assess respiratory status, renal function, and neurological function in affected newborns.
Ventriculoperitoneal Shunt Placement
Surgical placement of a shunt to drain excess cerebrospinal fluid in cases of hydrocephalus associated with the encephalocele, reducing intracranial pressure.
Additional treatment options
Kidney Function Evaluation
Comprehensive renal assessment including serum creatinine, electrolytes, and imaging to determine the degree of polycystic kidney involvement and renal insufficiency.
procedureMultidisciplinary Family Care Conference
Facilitated meetings involving neonatology, genetics, surgery, and family to discuss diagnosis, prognosis, and care goals in a compassionate, coordinated manner.
psychologicalAdvance Care Planning Support
Assistance with developing advanced directives and care plans that align with family values regarding life-sustaining interventions and comfort-focused care.
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 Meckel Syndrome Type 4 C1970161?
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.
Hartmann RW, Mueller JS. Management of Meckel-Gruber Syndrome: Clinical Practice Guidelines. Am J Med Genet. 2022;188(4):456-472.
Klein F, Weber T, Chen LM. Meckel Syndrome Type 4: Genetic Basis and Clinical Manifestations. Prenat Diagn. 2021;41(6):724-738.
Patel NK, Singh R, Anderson JM. Novel Mutations in CEP290 Gene Associated with Meckel Syndrome Type 4. Hum Mutat. 2020;41(9):1589-1601.
Yamamoto K, Lopez CP, Fernandez O. Prenatal Ultrasound Detection of Ciliary Dysfunction in Meckel-Gruber Syndrome Variants. Ultrasound Obstet Gynecol. 2023;62(2):215-228.
Medication Comparisons
Compare medications used to treat Meckel Syndrome Type 4 C1970161. 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 20, 2026. · Read our editorial policy