cardiofaciocutaneous syndrome

ORPHA: 1340

Contents

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

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 cardiofaciocutaneous syndrome, sourced from HPO and Orphanet clinical annotations.

Anteverted naresAbnormality of the eyeAbnormal eyelash morphologyAbnormality of visionLong palpebral fissureDry skinPalmoplantar keratodermaIntellectual disabilityHypotoniaGlobal developmental delayFailure to thrive in infancyAtrial septal defectPulmonic stenosisAbnormal heart valve morphologyAbnormal speech patternFine hairBrittle hairShort statureExcessive wrinkled skinFeeding difficulties in infancyUnderdeveloped supraorbital ridgesAbnormal cardiovascular system morphologyAplasia/Hypoplasia of the eyebrowCryptorchidismHigh palateMacrocephalyEpicanthusHypertelorismLong philtrumHigh foreheadMacrotiaWebbed neckShort neckStrabismusDownslanted palpebral fissuresPtosisMyopiaNystagmusPectus excavatumHyperkeratosisHyperextensible skinMultiple lentiginesCavernous hemangiomaPremature birthFrontal bossingLow posterior hairlineSlow-growing hairEEG abnormalityScoliosisShort noseBiparietal narrowingDepressed nasal bridgeDeep palmar creaseGeneralized hyperpigmentationMultiple cafe-au-lait spotsIchthyosisSparse hairDystrophic fingernailsHypoplasia of the zygomatic boneAbnormal morphology of ulnaSparse or absent eyelashesHydronephrosisSubmucous cleft hard palateHydrocephalusOptic atrophyLymphedemaDysarthriaRedundant skinHypertrophic cardiomyopathyCerebral cortical atrophyGenu valgumCubitus valgusAbnormality of the gastrointestinal tractFunctional abnormality of the gastrointestinal tractLong faceCoarse facial featuresFull cheeksThickened helicesPosteriorly rotated ears

Classification & Codes

Orphanet Code

ORPHA:1340

cardiofaciocutaneous syndrome

Orphanet	`ORPHA:1340`
Treatments	0 drug(s)
Symptoms on record	79 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO