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Ruvalcaba syndrome

MeSH: C579395ORPHA: 3121

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

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 Ruvalcaba syndrome, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaCryptorchidismNarrow mouthThin vermilion borderMicrocephalyHigh foreheadConvex nasal ridgeDownslanted palpebral fissuresPtosisAbnormal electroretinogramAbnormality of visual evoked potentialsDental crowdingPectus carinatumNarrow chestHematuriaDelayed pubertyHypopigmented skin patchesBrachydactylyIntellectual disabilitySeizureGlobal developmental delayIntrauterine growth retardationGeneralized hirsutismScoliosisKyphosisMicromeliaShort noseClinodactyly of the 5th fingerSynostosis of carpal bonesProximal placement of thumbAbnormality of the elbowShort metacarpalCone-shaped epiphysisAbnormal localization of kidneyAbnormal vertebral epiphysis morphologySmall hand

Classification & Codes

MeSH Code

C579395

Orphanet Code

ORPHA:3121
Ruvalcaba syndrome
MeSHC579395
OrphanetORPHA:3121
Treatments0 drug(s)
Symptoms on record36 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO