Meckel syndrome, type 9

General Information (adopted from Orphanet):

Synonyms, Signs: MKS9
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614209
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:0000003) Multicystic kidney dysplasia 17 / 7739
2
(HPO:0000062) Ambiguous genitalia 74 / 7739
3
(HPO:0000932) Abnormality of the posterior cranial fossa 5 / 7739
4
(HPO:0002085) Occipital encephalocele 20 / 7739
5
(HPO:0009826) Limb undergrowth 8 / 7739
6
(HPO:0001762) Talipes equinovarus 309 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

B9D1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011).

For a general phenotypic description and a discussion ...

Clinical Description OMIM Hopp et al. (2011) reported a fetus with Meckel syndrome who was found by ultrasound at 13 weeks' gestation to have posterior encephalocele and abnormal posterior fossa, bilaterally enlarged multicystic dysplastic kidneys, and no bladder. Polydactyly was not ...
Molecular genetics OMIM Hopp et al. (2011) performed exon-enriched next-generation sequencing of 31 ciliopathy genes in 12 MKS pedigrees. In a fetus with posterior encephalocele, multicystic dysplastic kidneys, ambiguous genitalia, and bilateral clubfeet, they identified a heterozygous splice donor site change ...