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ring chromosome 21

MeSH: C537109ORPHA: 1445

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 ring chromosome 21, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilitySeizureGlobal developmental delayAbnormal facial shapeAmenorrheaMicrocephalyInfertilityEEG abnormalityAzoospermiaDelayed speech and language developmentAbnormal thorax morphologyDiabetes insipidusCutaneous photosensitivitySyndactylySpasticityGait disturbanceHoloprosencephalyAbnormal heart morphologyGeneralized myoclonic seizureScoliosisNarrow palmDecreased circulating immunoglobulin concentrationShort statureMultiple cafe-au-lait spotsThoracic hemivertebraeSimple febrile seizureBilateral tonic-clonic seizure with generalized onsetFused thoracic vertebraeClinodactylySmall hand

Classification & Codes

MeSH Code

C537109

Orphanet Code

ORPHA:1445
ring chromosome 21
MeSHC537109
OrphanetORPHA:1445
Treatments0 drug(s)
Symptoms on record30 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO