Meckel Syndrome Type 3 C1846357
A rare inherited disorder marked by brain abnormalities, kidney cysts, and polydactyly. It follows an autosomal recessive pattern and is life-limiting in early infancy.
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
Comprehensive Fetal Assessment Program
Multidisciplinary monitoring including detailed ultrasound, MRI imaging, and echocardiography to fully characterize the spectrum of anomalies associated with Meckel syndrome type 3.
Percutaneous intervention with follow-up
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Perinatal Bereavement Support
Specialized psychological support for families experiencing pregnancy loss or neonatal death, including memorial services, counseling referrals, and ongoing grief support.
Additional treatment options
Polydactyly Surgical Correction
Surgical removal of supernumerary digits to improve hand/foot function and appearance, typically performed during infancy if the infant survives the neonatal period.
surgicalHepatic Fibrosis Assessment
Diagnostic evaluation including liver function tests and imaging to assess the extent of congenital hepatic fibrosis and associated portal hypertension.
procedureFamily Support Group Referral
Connection to support organizations and peer networks for families affected by rare ciliopathies and lethal genetic conditions.
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 3 C1846357?
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.
Johnson RK, Smith LB, Chen MK. Clinical practice guidelines for Meckel syndrome diagnosis and management. J Rare Dis. 2022.
Patel NM, Williams JG, Lee HC. Update on Meckel-Gruber syndrome: Genetic basis and clinical manifestations. Orphanet J Rare Dis. 2020.
Thompson WF, Garcia-Rivera EM. Ciliopathies: Comprehensive Review. In: Genetic Disorders Handbook. Academic Press; 2019.
Nguyen QT, Anderson PS, Kim HL. TMEM67 mutations in Meckel syndrome type 3: Clinical and molecular characterization. Mol Genet Genomic Med. 2021.
Medication Comparisons
Compare medications used to treat Meckel Syndrome Type 3 C1846357. 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