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faciocardiorenal syndrome

MeSH: C536388ORPHA: 1973

Contents

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

Overview

Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart 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 faciocardiorenal syndrome, sourced from HPO and Orphanet clinical annotations.

Horseshoe kidneyNarrow mouthCleft palateHypertelorismSmooth philtrumProtruding earUnderdeveloped nasal alaeWide nasal bridgeHypodontiaIntellectual disabilityPlagiocephalyFailure to thriveTricuspid valve prolapseEndocardial fibroelastosis

Classification & Codes

MeSH Code

C536388

Orphanet Code

ORPHA:1973
faciocardiorenal syndrome
MeSHC536388
OrphanetORPHA:1973
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO