fragile X syndrome
ICD-10: Q99.2MeSH: D005600ORPHA: 908
Overview
congenital disorder of nervous system
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 fragile X syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityMacroorchidismChronic otitis mediaPes planusAbnormal speech patternModerate intellectual disabilityFolate-dependent fragile site at Xq28SinusitisMacrocephalyNarrow faceLong faceMandibular prognathiaOtitis mediaMacrotiaProtruding earDelayed speech and language developmentHypotoniaLarge foreheadFrontal bossingGastroesophageal refluxDelayed gross motor developmentSleep disturbanceScoliosisAttention deficit hyperactivity disorderStrabismusAutismIrritabilityAnxietySeizureMitral valve prolapseCerebral cortical atrophyAscending tubular aorta aneurysmSelf-injurious behavior
Classification & Codes
ICD-10 Code
Q99.2MeSH Code
D005600Orphanet Code
ORPHA:908fragile X syndrome
| ICD-10 | Q99.2 |
| MeSH | D005600 |
| Orphanet | ORPHA:908 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO