Meckel syndrome

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
10649795
 FEMALE
Dandy-Walker anomaly in Meckel-Gruber syndrome.
Cincinnati P, Neri ME, Valentini A.
Clin Dysmorphol. 2000;9(1):35-8.
We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus.