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Young-Simpson syndrome

MeSH: C536717ORPHA: 3047

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 Young-Simpson syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityCryptorchidismProminent occiputRetrognathiaSloping foreheadMicrognathiaPosteriorly rotated earsLow-set earsBulbous noseProminent noseBlepharophimosisHypothyroidismIntellectual disabilityHypotoniaGlobal developmental delaySpecific learning disabilityLong noseSevere short statureShort palpebral fissureSubmucous cleft hard palateBifid uvulaMicrocephalySeizureFailure to thriveGrowth delayPolyhydramniosVentricular septal defectAtrial septal defectPatent ductus arteriosusRecurrent respiratory infectionsClinodactyly of the 5th fingerAbnormal cheek morphologyThyroid hypoplasiaAtrioventricular canal defectBilateral single transverse palmar creasesThyroid dysgenesisThyroid agenesisAbnormal antihelix morphologyFeeding difficultiesEctopic thyroidCamptodactyly of fingerAbnormal nasolacrimal system morphologyNeoplasm of the tongue

Classification & Codes

MeSH Code

C536717

Orphanet Code

ORPHA:3047
Young-Simpson syndrome
MeSHC536717
OrphanetORPHA:3047
Treatments0 drug(s)
Symptoms on record43 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO