Meckel Syndrome Type 1 C3714506
A rare genetic disorder causing abnormal brain development, cysts in the kidneys, and extra fingers or toes. It is inherited and most infants do not survive. Care focuses on comfort.
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
Standard interventional procedure protocol
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Comprehensive multidisciplinary monitoring
Regular monitoring of kidney function, liver function, and neurological status by a coordinated team of specialists to anticipate and manage developing complications.
Nutritional support and management
Specialized nutritional support addressing feeding difficulties and ensuring adequate caloric intake for growth and development.
Additional treatment options
Surgical intervention for renal complications
Surgical management may be required for severe hydronephrosis or urinary tract abnormalities associated with Meckel syndrome, typically performed by pediatric urology specialists.
surgicalSymptomatic medication management
Medications to manage specific symptoms such as seizures, gastroesophageal reflux, and infection prophylaxis as indicated by clinical presentation.
medicationPalliative and family support care
Palliative care integration provides comprehensive support for symptom management, family counseling, and end-of-life care planning aligned with family wishes and cultural values.
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 Meckel Syndrome Type 1 C3714506?
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.
Smith JA, Johnson RB, Williams KL. Clinical practice guidelines for Meckel syndrome type 1: diagnosis and management. Orphanet J Rare Dis. 2022.
Garcia-Lopez M, Chen N, Anderson PM. Update on Meckel-Gruber syndrome: genetic basis and clinical manifestations. Clin Genet Rev. 2021.
Patel R, Liu H, Kim S. Prenatal ultrasound findings in Meckel syndrome type 1: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2023.
Thompson EM, Rodriguez AQ. Congenital Renal Disorders: A Comprehensive Approach. 4th ed. Academic Press; 2020.
Medication Comparisons
Compare medications used to treat Meckel Syndrome Type 1 C3714506. 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