Meckel-Gruber syndrome

Synonyms: MKS

Material:

EDTA blood
(2-3 ml)

TAT:

3-6 weeks

Method:

NGS, CNV

Overview

Meckel-Gruber syndrome (MKS) is classified as a ciliopathy and is inherited in an autosomal recessive manner. The condition is associated with a range of malformations, including kidney cysts, brain malformations, microphthalmia or polydactyly. Most newborns with MKS die within the first two weeks of life. The disease can often be detected before birth by ultrasound. MKS shows gene locus heterogeneity similar to nephronophthisis, with pathogenic variants identified in around 20 genes.

Meckel-Gruber syndrome

20 Gene(s)*

B9D1

B9D2

CC2D2A

CEP290

CEP41

CPLANE1

CSPP1

KIF14

MKS1

NPHP3

RPGRIP1L

TCTN2

TCTN3

TMEM107

TMEM138

TMEM216

TMEM231

TMEM237

TMEM67

TTC21B

Clinical description

Frequency

Causes

Inheritance

Diagnosis

Differential diagnosis

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 25.09.2026

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