RIN2 syndrome
MeSH: C567770ORPHA: 217335
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 RIN2 syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal lip morphologyGingival overgrowthHigh palateCoarse facial featuresLong philtrumDownslanted palpebral fissuresHyperextensible skinHirsutismJoint hypermobilityRedundant skinPes planusSparse scalp hairScoliosisInfra-orbital foldUpper eyelid edemaIrregular dentitionAbnormal sternum morphologyBruising susceptibilityUmbilical herniaAbnormally high-pitched voiceCognitive impairmentCryptorchidismHypergonadotropic hypogonadismBrachydactylyIncreased susceptibility to fracturesAortic aneurysmPremature ovarian insufficiencyHigh myopia
Classification & Codes
MeSH Code
C567770Orphanet Code
ORPHA:217335RIN2 syndrome
| MeSH | C567770 |
| Orphanet | ORPHA:217335 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO