Meckel syndrome type 7
MeSH: C537756ORPHA: 3032
Overview
Meckel syndrome that has material basis in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Meckel syndrome type 7, sourced from HPO and Orphanet clinical annotations.
Multicystic kidney dysplasiaRenal dysplasiaDandy-Walker malformationPolyhydramniosOligohydramniosAbnormality of the pancreasPulmonary hypoplasiaIntestinal malrotationAbnormal biliary tract morphologyAbnormal liver parenchyma morphology
Classification & Codes
MeSH Code
C537756Orphanet Code
ORPHA:3032Meckel syndrome type 7
| MeSH | C537756 |
| Orphanet | ORPHA:3032 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO