Meckel syndrome 13

ORPHA: 564

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

human disease

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 13, 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:564

Meckel syndrome 13

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