Holzgreve-Wagner-Rehder Syndrome

MeSH: C535327ORPHA: 2167

Overview

syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects

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 Holzgreve-Wagner-Rehder Syndrome, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsAplasia/Hypoplasia of the lungsRenal hypoplasia/aplasiaAbnormal cardiovascular system morphologyTurricephalyMacrotiaWebbed neckAbnormal rib morphologySingle umbilical arteryJoint stiffnessAbnormal metacarpal morphologyAplasia/Hypoplasia of the corpus callosumAplasia/Hypoplasia of the tongueBifid tongueAbnormal morphology of ulnaAbnormal mesentery morphologyAbnormally ossified vertebraeCleft palateHand polydactylyIntrauterine growth retardationOligohydramnios

Classification & Codes

MeSH Code

C535327

Orphanet Code

ORPHA:2167
Holzgreve-Wagner-Rehder Syndrome
MeSHC535327
OrphanetORPHA:2167
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO