Meckel syndrome
Findings
No curated finding names Meckel syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018921), read 2026-09-29. CC BY 4.0.
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Congenital hepatic fibrosisHPOHP:0002612
- Very frequent (80% to 99% of cases)
- EncephaloceleHPOHP:0002084
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Multicystic kidney dysplasiaHPOHP:0000003
- Very frequent (80% to 99% of cases)
- Postaxial foot polydactylyHPOHP:0001830
- Very frequent (80% to 99% of cases)
- Postaxial hand polydactylyHPOHP:0001162
- Very frequent (80% to 99% of cases)
- Abnormal chorioretinal morphologyHPOHP:0000532
- Frequent (30% to 79% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the irisHPOHP:0008053
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
Show the remaining 33
- Depressed nasal ridgeHPOHP:0000457
- Frequent (30% to 79% of cases)
- Full cheeksHPOHP:0000293
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Lobar holoprosencephalyHPOHP:0006870
- Frequent (30% to 79% of cases)
- MicrocorneaHPOHP:0000482
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
Genes
16 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TXNDC15HGNC:20652
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
- B9D1HGNC:24123
- Supportive · Orphanet · Autosomal recessive · 2021
- B9D2HGNC:28636
- Supportive · Orphanet · Autosomal recessive · 2021
- CEP290HGNC:29021
- Supportive · Orphanet · Autosomal recessive · 2021
- CSPP1HGNC:26193
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (14)
- lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- Meckel syndrome 13
- meckel syndrome 14
- Meckel syndrome, type 1
- Meckel syndrome, type 10
- Meckel syndrome, type 11
- Meckel syndrome, type 2
- Meckel syndrome, type 3
- Meckel syndrome, type 4
- Meckel syndrome, type 5
- Meckel syndrome, type 6
- Meckel syndrome, type 8
- Meckel syndrome, type 9
- NPHP3-related Meckel-like syndrome
Other names
1 name
Resolves to: Meckel syndrome
- Also called
- Meckel-Gruber syndrome