Short answer · Medically reviewed summary · Last updated: 2026-05-08
Meckel Syndrome, also known as Meckel-Gruber syndrome, is classified under ICD-10 code Q61.9 (congenital renal cyst) and was historically categorized under ICD-9 code 753.1. As a lethal ciliopathy, Meckel Syndrome is characterized by a specific triad of symptoms, and accurate coding is essential for medical documentation and research tracking. What exactly is Meckel Syndrome? Meckel Syndrome is a severe, autosomal recessive genetic disorder that typically results in perinatal lethality.
ICD10 code of Meckel Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Meckel Syndrome, with classification details for clinicians, coders and patients.
Meckel Syndrome, also known as Meckel-Gruber syndrome, is classified under ICD-10 code Q61.9 (congenital renal cyst) and was historically categorized under ICD-9 code 753.1. As a lethal ciliopathy, Meckel Syndrome is characterized by a specific triad of symptoms, and accurate coding is essential for medical documentation and research tracking.
What exactly is Meckel Syndrome?
Meckel Syndrome is a severe, autosomal recessive genetic disorder that typically results in perinatal lethality. The condition is a classic ciliopathy caused by dysfunction in the primary cilia, which are essential for cellular signaling. Currently, 34 individuals affected by or connected to the impact of Meckel Syndrome have joined the DiseaseMaps community, sharing their unique experiences and navigating the complexities of this rare diagnosis.
What are the diagnostic criteria for Meckel Syndrome?
The clinical diagnosis of Meckel Syndrome is generally confirmed by the presence of at least two of the following cardinal features:
- Occipital encephalocele: A neural tube defect where brain tissue protrudes through an opening in the skull.
- Multicystic dysplastic kidneys: Characterized by enlarged, non-functioning kidneys filled with cysts.
- Postaxial polydactyly: The presence of extra digits on the hands or feet.
- Hepatic developmental anomalies: Including ductal plate malformations and liver fibrosis.
Is Meckel Syndrome hereditary?
Yes, Meckel Syndrome follows an autosomal recessive inheritance pattern. This means that if both parents are carriers of a pathogenic variant in one of the known genes (such as MKS1, TMEM67, or CEP290), there is a 25% chance with each pregnancy that the child will be affected by Meckel Syndrome. Genetic counseling is strongly recommended for families planning future pregnancies after a diagnosis of Meckel Syndrome.
How is Meckel Syndrome managed?
Because Meckel Syndrome is typically lethal in the neonatal period, clinical management focuses on palliative care and supportive measures. Multidisciplinary teams, including clinical geneticists and neonatologists, provide essential guidance to families. Understanding the genetic underpinnings of Meckel Syndrome is vital for accurate recurrence risk assessment.
Next steps
- Consult with a clinical geneticist to discuss carrier testing and reproductive options.
- Connect with the 34 members of the DiseaseMaps community to share experiences and find support.
- Review resources from the NIH GARD to stay updated on the latest research regarding Meckel Syndrome.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; always consult a qualified healthcare professional regarding rare disease management.
References
- Orphanet: Meckel Syndrome (ORPHA:565)
- NIH Genetic and Rare Diseases Information Center (GARD): Meckel Syndrome
- OMIM (Online Mendelian Inheritance in Man): MKS1 (Entry #249000)
- DiseaseMaps.org: Community patient data for Meckel Syndrome
