Meckel-Gruber syndrome

SYD: 52




Meckel-Gruber syndrome

Description: Meckel-Gruber syndrome (MKS) (OMIM 24900) is a lethal, rare, autosomal recessive condition mapped to chromosomes 17q21-24, 11q13, and 8q24. This mapping suggests genetic heterogeneity in MKS. The triad of occipital encephalocele, large polycystic kidneys, and postaxial polydactyly characterizes MKS. Associated abnormalities include oral clefting, genital anomalies, CNS malformations, and liver fibrosis. Pulmonary hypoplasia is the leading cause of death. Improvements in ultrasonography have enabled prenatal diagnosis as early as 10 weeks' gestation


Synonyms:
There are no synonyms for this combination.

Category: Syndrome

Developmental anomalies

Listed in the combination's profile :


There are no developmental anomalies for this combination.

Observed in MDB cases:


There are no developmental anomalies for this combination.
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Associated malformative diseases
Associated genes
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