X small rings
ORPHA: 96201
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 X small rings, sourced from HPO and Orphanet clinical annotations.
Thin upper lip vermilionCoarse facial featuresEpicanthusHypertelorismLong philtrumProtruding earAnteverted naresShort neckStrabismusLong palpebral fissureGlobal developmental delayPrimary amenorrheaOsteoporosisClinodactyly of the 5th fingerTapered fingerIntellectual disabilitySeizureBilateral tonic-clonic seizureNeonatal hypotoniaGrowth delayOligohydramniosVentricular septal defectBicuspid aortic valveMitral stenosisToe syndactylyAbnormal facial shapeLow posterior hairlineAortic root aneurysmUpper limb undergrowthLower limb undergrowth2-3 toe syndactylyReduced bone mineral densitySevere intellectual disabilityEarly-onset non-progressive night blindnessPremature ovarian insufficiencyFetal pyelectasisFeeding difficultiesCutaneous syndactylyTall chinJoint hypermobility
Classification & Codes
Orphanet Code
ORPHA:96201X small rings
| Orphanet | ORPHA:96201 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO