Costello syndrome
MeSH: D056685ORPHA: 3071
Overview
syndrome characterized by craniofacial dysmorphology, cardiac defects, mild intellectual disability, and high birth weight followed by a failure to thrive and developmental delays
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 Costello syndrome, sourced from HPO and Orphanet clinical annotations.
Narrow palateMacrocephalyShort neckStrabismusPtosisAbnormality of the skinAcanthosis nigricansHyperkeratosisAbnormal fingernail morphologyFailure to thrive in infancyRedundant skinConcave nailVentricular septal defectPulmonic stenosisDeep-set nailsWoolly hairDelayed skeletal maturationShort statureDepressed nasal bridgeFeeding difficulties in infancyLack of skin elasticityCryptorchidismMacroglossiaAbnormality of the dentitionThick lower lip vermilionEpicanthusFull cheeksThickened nuchal skin foldAstigmatismOptic disc pallorMyopiaKeratoconusNystagmusAbnormal dental enamel morphologyIntellectual disabilityJoint hypermobilityPolyhydramniosMitral valve prolapseHypertrophic cardiomyopathyHypoplastic toenailsGastroesophageal refluxCerebral cortical atrophyThickened Achilles tendonAbnormal dermatoglyphicsUlnar deviation of fingerPapillomaCoarse facial featuresPosteriorly rotated earsHypermetropiaAbnormal hair morphologyPoor suckGeneralized hyperpigmentationLarge earlobeCompensatory head postureLarge face
Classification & Codes
MeSH Code
D056685Orphanet Code
ORPHA:3071Costello syndrome
| MeSH | D056685 |
| Orphanet | ORPHA:3071 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO