RIDDLE syndrome
MeSH: C567453ORPHA: 420741
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 RIDDLE syndrome, sourced from HPO and Orphanet clinical annotations.
Decreased circulating IgA concentrationImmunodeficiencyDecreased circulating IgG concentrationShort statureElevated circulating alpha-fetoprotein concentrationChromosomal breakage induced by ionizing radiationSpecific learning disabilityRecurrent feverAbnormal facial shapePneumoniaRecurrent pneumoniaRecurrent sinusitisChronic sinusitisBronchitisMicrocephalyOtitis mediaConjunctival telangiectasiaEmotional labilityTelangiectasiaAtaxiaGlobal developmental delayGait disturbanceArthritisWeight lossDiarrheaAbdominal painRestrictive ventilatory defectPulmonary fibrosisClumsinessHeadacheAbnormal cerebral white matter morphologyDecreased circulating total IgMRespiratory failureRecurrent viral infectionsAbnormal pulmonary interstitial morphologyPoor hand-eye coordinationDemyelinating peripheral neuropathyGeneralized lymphadenopathyEnuresis nocturnaErythemaNeonatal asphyxiaIntraventricular hemorrhageScaling skin
Classification & Codes
MeSH Code
C567453Orphanet Code
ORPHA:420741RIDDLE syndrome
| MeSH | C567453 |
| Orphanet | ORPHA:420741 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO