ring chromosome 2
ORPHA: 96171
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 ring chromosome 2, sourced from HPO and Orphanet clinical annotations.
MicrocephalyEpicanthusIntrauterine growth retardationPostnatal growth retardationHypertelorismNarrow foreheadLong philtrumMicrognathiaLow-set earsWide nasal bridgeShort neckGlobal developmental delayOligohydramniosHighly arched eyebrowClinodactyly of the 5th fingerFeeding difficulties in infancyCryptorchidismAutistic behaviorCafe-au-lait spotBrachydactylyJoint hypermobilityPatent ductus arteriosusAbnormal cardiac septum morphologyAbnormal foot morphologyScoliosis
Classification & Codes
Orphanet Code
ORPHA:96171ring chromosome 2
| Orphanet | ORPHA:96171 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO