Meckel syndrome

MONDO:0018921

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.

Also known as: Meckel-Gruber syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with Meckel syndrome itself.

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↑ Syndromic disease (7158) ↑ Ciliopathy (49) ↑ Hereditary lethal multiple congenital anomalies/dysmorphic syndrome (1)

Sub-types of Meckel syndrome

Meckel syndrome, type 1 1 trial
Meckel syndrome 13 0 trials
Meckel syndrome, type 10 0 trials
Meckel syndrome, type 11 0 trials
Meckel syndrome, type 2 0 trials
Meckel syndrome, type 3 0 trials
Meckel syndrome, type 4 0 trials
Meckel syndrome, type 5 0 trials
Meckel syndrome, type 6 0 trials
Meckel syndrome, type 8 0 trials
Meckel syndrome, type 9 0 trials
NPHP3-related Meckel-like syndrome 0 trials
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 trials
Meckel syndrome 14 0 trials

Including sub-types (1) Tagged with Meckel syndrome (0)

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