OrphanDrug
OrphanDrug
Pharma Knowledge Base

choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

MeSH: C537411ORPHA: 1200

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 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 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal palate morphologyHypertelorismProminent nasal bridgeWide nasal bridgeAbnormality of the eyeAbnormality of visionAbnormal cardiac septum morphologyShort noseShort statureBilateral choanal atresiaShort palpebral fissure

Classification & Codes

MeSH Code

C537411

Orphanet Code

ORPHA:1200
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
MeSHC537411
OrphanetORPHA:1200
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO