cri-du-chat syndrome
MeSH: D003410ORPHA: 281
Overview
human medical condition
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 cri-du-chat syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyEpicanthusMicroretrognathiaRound faceWide nasal bridgeHypotoniaAbnormality of the voiceAbnormally high-pitched voiceSevere intellectual disabilitySevere global developmental delayCat cryHigh palateHypertelorismShort neckDownslanted palpebral fissuresIntrauterine growth retardationScoliosisShort statureSmall handInguinal herniaPreauricular skin tagRecurrent fracturesAbnormality of bone mineral densityFinger syndactylyAbnormal cardiovascular system morphologyJoint hypermobilityPosteriorly rotated ears
Classification & Codes
MeSH Code
D003410Orphanet Code
ORPHA:281cri-du-chat syndrome
| MeSH | D003410 |
| Orphanet | ORPHA:281 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO