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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Where it sits in the disease tree

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↑ Syndromic disease (7133) ↑ 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)

Trials to join now! 1

New registry aims to unlock secrets of rare Kidney-Liver diseases

Knowledge-focused Recruiting now

This study is creating a central database and tissue bank for rare diseases affecting the kidneys and liver, such as ARPKD and Joubert syndrome. Researchers will collect medical information, genetic samples, and tissues from 200 participants to help doctors and scientists better …

Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

Last updated Jun 27, 2026 14:00 UTC

Meckel syndrome

Where it sits in the disease tree

New registry aims to unlock secrets of rare Kidney-Liver diseases