Meckel syndrome

Pathology

• renal cysts
• developmental anomalies of the central nervous system (generally encephalocele)
• hepatic duct dysplasia

Genetics

• autosomal recessive
• associated with defects in MKS1 gene (type 1)
• associated with defects in RPGRIP1L gene (type 2?)
• associated with defects in TMEM67 gene (type 3)
• associated with defects in CEP290 (type 4)

Clinical manifestations

• variable
• developmental anomalies of the CNS (typically encephalocele)
• cysts, renal cysts
• hepatic duct dysplasia
• polydactyly

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/24900
• OMIM: https://mirror.omim.org/entry/607361
• OMIM: https://mirror.omim.org/entry/611134