Meckel syndrome

rare

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.

Identifiers: MONDO:0018921 Orphanet:564
Part of: Ciliopathy Hereditary lethal multiple congenital anomalies/dysmorphic syndrome Syndromic disease
Also known as: Meckel-Gruber syndrome

Subtypes

All diseases Rare only

Disease	ID	Genes
Meckel syndrome 13	MONDO:0033044
Meckel syndrome, type 1	MONDO:0009571
Meckel syndrome, type 10	MONDO:0013609	B9D2
Meckel syndrome, type 11	MONDO:0014164	TMEM231
Meckel syndrome, type 2	MONDO:0011296	TMEM216
Meckel syndrome, type 3	MONDO:0011821	TMEM67
Meckel syndrome, type 4	MONDO:0012626
Meckel syndrome, type 5	MONDO:0012695	RPGRIP1L
Meckel syndrome, type 6	MONDO:0012848	CC2D2A
Meckel syndrome, type 8	MONDO:0013482	TCTN2
Meckel syndrome, type 9	MONDO:0013630	B9D1
NPHP3-related Meckel-like syndrome	MONDO:0009966	NPHP3
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	MONDO:0014552	KIF14
Meckel syndrome 14	MONDO:0030819	TXNDC15

Projects

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