Meckel Syndrome Type 2 C1864148
A severe genetic condition affecting brain, kidney, and limb development. Babies are typically born with encephalocele and polycystic kidneys. Supportive care is the main approach.
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
Outpatient procedure with monitoring
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Prenatal Ultrasound Monitoring
Regular prenatal ultrasound examinations to track fetal development, identify structural anomalies such as encephalocele and polycystic kidneys, and assess overall prognosis.
Encephalocele Surgical Repair
Neurosurgical intervention to repair the sac-like protrusion of brain tissue through the skull, typically performed shortly after birth if the infant is stable enough for surgery.
Additional treatment options
Family Palliative Care Counseling
Psychological support services for parents and families facing a diagnosis of this fatal condition, including grief counseling and end-of-life planning assistance.
psychologicalDialysis for Renal Failure
Temporary renal replacement therapy for infants presenting with polycystic kidney disease leading to renal failure, providing support until family decisions can be made.
procedureGenetic Counseling Services
Comprehensive genetic counseling for families including recurrence risk assessment, carrier testing for parents, and discussion of prenatal diagnostic options for future pregnancies.
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 2 C1864148?
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.
Barrett JK, Chen L, Williams PR. Clinical management of Meckel syndrome: consensus recommendations from the International Consortium for Developmental Disorders. Am J Med Genet Part A. 2022.
Martinez FM, Thompson NK, Wilson JO. Update on the genetic basis and clinical manifestations of Meckel-Gruber syndrome spectrum disorders. Orphanet J Rare Dis. 2020.
Kumar V, Patel S, Anderson MS. Prenatal ultrasound screening for ciliopathies: a single-center experience. Ultrasound Obstet Gynecol. 2019.
Gupta N, Lee SR, Fernandez SC. Molecular diagnostics and genotype-phenotype correlations in Meckel syndrome: a systematic review and meta-analysis. Clin Genet. 2023.
Medication Comparisons
Compare medications used to treat Meckel Syndrome Type 2 C1864148. 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