Meckel syndrome, type 8

General Information (adopted from Orphanet):

Synonyms, Signs: MKS8
Number of Symptoms 17
OrphanetNr:
OMIM Id: 613885
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004719) Hyperechogenic kidneys 10 / 7739
2
(HPO:0002084) Encephalocele 70 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0000470) Short neck 345 / 7739
5
(HPO:0000337) Broad forehead 116 / 7739
6
(HPO:0000175) Cleft palate 349 / 7739
7
(HPO:0003196) Short nose 264 / 7739
8
(HPO:0000457) Depressed nasal ridge 85 / 7739
9
(HPO:0000528) Anophthalmia 42 / 7739
10
(HPO:0000568) Microphthalmia 183 / 7739
11
(HPO:0000204) Cleft upper lip 193 / 7739
12
(HPO:0000369) Low-set ears 372 / 7739
13
(HPO:0001762) Talipes equinovarus 309 / 7739
14
(HPO:0001162) Postaxial hand polydactyly 119 / 7739
15
(HPO:0010442) Polydactyly 69 / 7739
16
(HPO:0003270) Abdominal distention 46 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

TCTN2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).

For a ...

Clinical Description OMIM Shaheen et al. (2011) described a consanguineous Saudi family in which 5 pregnancies were affected with Meckel-Gruber syndrome defined as the presence of encephalocele and any of the following: biliary ductal dysplasia, renal dysplasia, or polydactyly. One patient ...
Molecular genetics OMIM In affected members of a consanguineous Arab family with Meckel-Gruber syndrome, Shaheen et al. (2011) identified homozygosity for a splice site mutation in the TCTN2 gene (613846.0001) that completely abolished normal splicing and created 2 aberrant transcripts. The ...