Meckel syndrome
ORPHA: 564
Overview
a rare, lethal, ciliopathic, genetic disorder with malformations of the urinary system, of central nervous system, hepatic developmental defects, and pulmonary hypoplasia.
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, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsMulticystic kidney dysplasiaMicrocephalyPostaxial hand polydactylyPostaxial foot polydactylyEncephaloceleCongenital hepatic fibrosisCryptorchidismAmbiguous genitaliaCleft palateFull cheeksHypertelorismSloping foreheadMicrognathiaDepressed nasal ridgeMicrocorneaCataractAbnormal chorioretinal morphologyMicrophthalmiaSclerocorneaOptic atrophyOligohydramniosTalipesLobar holoprosencephalyAplasia/Hypoplasia of the irisMale pseudohermaphroditismUrethral atresiaUreteral duplicationFurrowed tongueHydrocephalusAnophthalmiaPreaxial hand polydactylyDandy-Walker malformationSitus inversus totalisPancreatic cystsAspleniaAccessory spleenAnencephalyBowing of the long bonesCystic liver diseaseAplasia/Hypoplasia of the corpus callosumAplasia/Hypoplasia of the tongueTrue hermaphroditismAbnormal cardiovascular system morphologyPancreatic fibrosis
Classification & Codes
Orphanet Code
ORPHA:564Meckel syndrome
| Orphanet | ORPHA:564 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO