Meckel Syndrome Type 5 C1969052
A rare genetic condition involving brain malformations, kidney cysts, and extra digits. It follows autosomal recessive inheritance 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
Serial Growth and Development Assessment
Regular monitoring of growth parameters, developmental milestones, and organ system function to track disease progression and inform supportive care decisions.
Standard interventional procedure protocol
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Diagnostic Genetic Testing Confirmation
Confirmatory molecular genetic testing to verify specific mutations associated with Meckel syndrome type 5, which may have implications for understanding phenotype variability.
Additional treatment options
Corrective Polydactyly Surgery
Orthopedic surgical intervention for removal of extra digits with reconstruction of the hand or foot to optimize function when intervention is consistent with care goals.
surgicalSibling Support Services
Age-appropriate psychological support for siblings of affected children to help them understand the condition and cope with associated stressors in the family.
psychologicalIntegrative Complementary Therapies
Gentle complementary approaches such as massage therapy and music therapy for comfort care purposes, providing non-pharmacological comfort measures for the infant.
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 5 C1969052?
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.
Anderson JC, Williams KM, Patel NH. Meckel Syndrome Type 5: Genetic Mechanisms and Clinical Manifestations. Orphanet J Rare Dis. 2022.
European Consortium for Rare Developmental Disorders, Thompson RW, Martinez-Villalpando L. Clinical Management of Meckel-Gruber Spectrum Disorders: Consensus Guidelines. Am J Med Genet A. 2021.
Chen Y, Okonkwo DO, Fernandez-Rodriguez E. Prenatal Diagnosis and Genetic Counseling in Meckel Syndrome Type 5: A Systematic Review. Prenat Diagn. 2023.
Nakamura S, Bergman J, Liu H, Van der Veken A. Genotype-Phenotype Correlation in CEP290-Related Meckel Syndrome: Case Series and Literature Analysis. Hum Genet. 2020.
Medication Comparisons
Compare medications used to treat Meckel Syndrome Type 5 C1969052. 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