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subaortic stenosis-short stature syndrome

MeSH: C537749ORPHA: 3191

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 subaortic stenosis-short stature syndrome, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsAnteverted naresAbnormality of the voiceSubvalvular aortic stenosisShort statureMembranous subvalvular aortic stenosisAbnormal vocal cord morphologyArrhythmiaInguinal herniaObesityRespiratory insufficiencyScoliosisKyphosisEpicanthusMicrognathiaShort neckMicrophthalmiaNystagmusMicrodontiaAcneBiliary tract abnormalityIntellectual disabilityAbnormal circulating lipid concentrationSynostosis of carpal bonesType II diabetes mellitusBilateral single transverse palmar creases

Classification & Codes

MeSH Code

C537749

Orphanet Code

ORPHA:3191
subaortic stenosis-short stature syndrome
MeSHC537749
OrphanetORPHA:3191
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO