Meckel syndrome, type 4

General Information (adopted from Orphanet):

Synonyms, Signs: MKS4
Meckel-Gruber syndrome, type 4 Meckel-like cerebrorenodigital syndrome, included
Number of Symptoms 27
OrphanetNr:
OMIM Id: 611134
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
20690115 [IBIS]
Age of onset: Neonatal
20690115 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001696) Situs inversus totalis 20690115 IBIS 44 / 7739
2
(HPO:0000175) Cleft palate rare [HPO:skoehler] 20690115 IBIS 349 / 7739
3
(HPO:0000811) Abnormal external genitalia 20690115 IBIS 6 / 7739
4
(HPO:0000812) Abnormal internal genitalia 20690115 IBIS 5 / 7739
5
(HPO:0001627) Abnormal heart morphology 20690115 IBIS 19 / 7739
6
(HPO:0100259) Postaxial polydactyly 20690115 IBIS 85 / 7739
7
(HPO:0005562) Multiple renal cysts 20690115 IBIS 16 / 7739
8
(HPO:0006888) Meningoencephalocele 20690115 IBIS 3 / 7739
9
(HPO:0002085) Occipital encephalocele 20690115 IBIS 20 / 7739
10
(HPO:0003811) Neonatal death 20690115 IBIS 44 / 7739
11
(HPO:0000107) Renal cyst 126 / 7739
12
(HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
13
(HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
14
(HPO:0001305) Dandy-Walker malformation 17564974 IBIS 79 / 7739
15
(HPO:0002084) Encephalocele 70 / 7739
16
(HPO:0006487) Bowing of the long bones rare [HPO:skoehler] 95 / 7739
17
(HPO:0001162) Postaxial hand polydactyly 119 / 7739
18
(HPO:0001408) Bile duct proliferation 22 / 7739
19
(HPO:0001511) Intrauterine growth retardation 358 / 7739
20
(HPO:0001629) Ventricular septal defect 17564974 IBIS 316 / 7739
21
(HPO:0001631) Atria septal defect 17564974 IBIS 274 / 7739
22
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
(HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 7739
24
(HPO:0002323) Anencephaly rare [HPO:skoehler] 28 / 7739
25
(HPO:0002419) Molar tooth sign on MRI rare [HPO:skoehler] 27 / 7739
26
(HPO:0002335) Agenesis of cerebellar vermis 17564974 IBIS 25 / 7739
27
(HPO:0002079) Hypoplasia of the corpus callosum 17564974 IBIS 161 / 7739

Associated genes:

CEP290;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Meckel syndrome is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. For a more ...
Clinical Description OMIM Frank et al. (2008) reported a consanguineous family of Kosovar Albanian origin in which 2 male fetuses were found to have ultrasonographic features of Meckel syndrome. Both pregnancies were terminated. Postmortem examination showed enlarged cystic dysplastic kidneys, hepatobiliary ...
Molecular genetics OMIM - Meckel Syndrome

To identify new Meckel syndrome loci, Baala et al. (2007) performed a genomewide linkage scan in 8 families unlinked to known Meckel syndrome loci and found linkage to chromosome 12. The interval was ...