Meckel Syndrome, Type 4; Mks4

Description

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Meckel Syndrome, Type 4; Mks4

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum
  • Hydrocephalus
  • Atrial septal defect
  • Microphthalmia
  • Polydactyly
  • Postaxial polydactyly

And another 13 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Meckel Syndrome, Type 4; Mks4 Is also known as meckel-gruber syndrome, type 4.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Meckel Syndrome, Type 4; Mks4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
CEP290 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
100 %
CEP290 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
100 %
CEP290 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
100 %
CEP290 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
100 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2
Specificity
6 %
Genes
100 %
Joubert Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

AHI1, TMEM216, TMEM67, CEP290, CC2D2A, NPHP1
Specificity
17 %
Genes
100 %
CEP290 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CEP290
Specificity
100 %
Genes
100 %

We have 197 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WHITE-SUTTON SYNDROME; WHSUS FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 MULTIPLE OSTEOCHONDROMAS DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5 FOVEAL HYPOPLASIA 2; FVH2 AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED

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