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Keutel syndrome

MeSH: C536167ORPHA: 85202

Contents

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

Overview

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism

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 Keutel syndrome, sourced from HPO and Orphanet clinical annotations.

Long faceSloping foreheadHearing impairmentRecurrent otitis mediaUnderdeveloped nasal alaeWide noseOptic atrophySoft, doughy skinSeizureMild intellectual disabilityGlobal developmental delayAlopeciaVentricular septal defectPulmonary arterial hypertensionRecurrent respiratory infectionsShort statureDermal atrophyPulmonary artery stenosisDepressed nasal bridgeShort distal phalanx of fingerRecurrent sinusitisMidface retrusionCalcification of cartilageTracheal atresia

Classification & Codes

MeSH Code

C536167

Orphanet Code

ORPHA:85202
Keutel syndrome
MeSHC536167
OrphanetORPHA:85202
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO