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congenital heart defect-round face-developmental delay syndrome

MeSH: C536680ORPHA: 1355

Contents

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

Overview

medical condition

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 congenital heart defect-round face-developmental delay syndrome, sourced from HPO and Orphanet clinical annotations.

Narrow mouthAbnormal oral cavity morphologyRound faceDepressed nasal ridgeAnteverted naresShort noseShort statureHypopigmentation of hairGeneralized hyperpigmentationAbnormal dermatoglyphicsAbnormal cardiovascular system morphologyHypospadias

Classification & Codes

MeSH Code

C536680

Orphanet Code

ORPHA:1355
congenital heart defect-round face-developmental delay syndrome
MeSHC536680
OrphanetORPHA:1355
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO