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GENATLAS PHENOTYPE

last update : 1/03/2007

Symbol	MKS1
Location	17q22
Name	Meckel syndrome, type 1
Other name(s)	Meckel-Gruber syndrome dysencephalia splanchnocystica
Corresponding gene	MKS1
Other symbol(s)	MES, MKS
Main clinical features	an occipital meningo-oncephalocele with multicystic enlarged kidneys liver fibrosis, typically manifesting as impeded development of the intrahepatic biliary system and ductal plate malformation and frequent post-axial polydactyly, cleft lip/palate, laterality defects and congenital heart malformations including dextrocardia, shortening and bowing of the long tubular bones and abnormal development of the male genitalia agenesis of corpus callosum
Genetic determination	autosomal recessive
Function/system disorder	congenital malformation
	kidney and urinary tract
	limbs
	neurology
Type	disease

Remark(s)

Genotype/Phenotype correlations

deletion of 29 bp in intron 15 in the MKS1 gene is highly associated with a distinct subtype of the MKS, namely the campomelic variant