Contributor: Gordon K. Klintworth
Meckel syndrome (Gruber syndrome, dysencephalia splanchnocystica, Meckel-Gruber syndrome) is an invariably fatal autosomal recessive inherited disease characterized by numerous developmental malformations. The manifestations of this syndrome, which was first documented by Johann Friedrich Meckel (1781-1833) in 1822, include a sloping forehead, occipital encephalocele, polydactyly, cystic dysplasia of the kidneys (polycystic kidney disease) and liver abnormalities (arrested development of intrahepatic biliary system, bile duct proliferation, portal fibrosis and portal fibrovascular obliteration). Some cases manifest bowing of the long bones of the limbs or the Dandy-Walker malformation of the brain. The ocular abnormalities include anophthalmos, microphthalmos, congenital cataract [cataract - congenital], retinal dysplasia and optic nerve abnormalities. Affected individuals die within the first few months of life. Many of the clinical features, except the occipital encephalocele, resemble those in trisomy 13. The condition occurs in an unusually high frequency in Finland and Russia (Tatars). Genes for Meckel syndrome have been mapped to human chromosome 17 (17q22-q23) in Finland (Meckel syndrome type I ) and chromosome 11 (11q13) (Merkel syndrome type II). The differential diagnosis includes Knobloch syndrome and HARDħE syndrome.