48,XXXX syndrome
ICD-10: Q97.1MeSH: C536502ORPHA: 9
Overview
rare chromosomal disorder with 4 X chromosomes
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 48,XXXX syndrome, sourced from HPO and Orphanet clinical annotations.
Global developmental delaySpecific learning disabilityRadioulnar synostosisCognitive impairmentBrachydactylyHip dysplasiaClinodactyly of the 5th fingerAbnormality of immune system physiologyAbnormal cardiovascular system morphologyAbnormality of the dentitionEpicanthusHypertelorismStrabismusUpslanted palpebral fissureHypotoniaJoint hypermobility
Classification & Codes
ICD-10 Code
Q97.1MeSH Code
C536502Orphanet Code
ORPHA:948,XXXX syndrome
| ICD-10 | Q97.1 |
| MeSH | C536502 |
| Orphanet | ORPHA:9 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO