keratitis–ichthyosis–deafness syndrome
MeSH: C537363ORPHA: 477
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 keratitis–ichthyosis–deafness syndrome, sourced from HPO and Orphanet clinical annotations.
Corneal neovascularizationAbnormality of the dentitionPrelingual sensorineural hearing impairmentKeratitisConjunctivitisVisual lossPhotophobiaSparse eyelashesPalmoplantar keratodermaKeratoconjunctivitis siccaRecurrent skin infectionsScarring alopecia of scalpProgeroid facial appearanceCongenital ichthyosiform erythrodermaFollicular hyperkeratosisSparse hairNail dystrophySevere sensorineural hearing impairmentPunctate keratitisEpidermal acanthosisLimbal stem cell deficiencyScaling skinSparse eyebrowCorneal erosionSkin plaqueHypohidrosisArthritisFailure to thriveOnychogryphosisPsoriasiform dermatitisRecurrent candida infectionsRecurrent bacterial skin infectionsAplastic/hypoplastic lacrimal glandsPostnatal growth retardationRecurrent cutaneous fungal infectionsNeurodevelopmental delayFolliculitisPosterior blepharitisAngular cheilitisGingivitisDandy-Walker malformationCerebellar vermis hypoplasiaAbnormal facial shapeCoxa valgaSquamous cell carcinomaPatellar hypoplasiaKnee flexion contractureNeoplasm of the skinEquinus calcaneusDelayed pubic bone ossificationPeripheral neuropathyProminent foreheadTrichilemmomaKnee painLip fissureAcne inversaNeoplasm of the tongueSepsisRecurrent cutaneous abscess formationSkin nodule
Classification & Codes
MeSH Code
C537363Orphanet Code
ORPHA:477keratitis–ichthyosis–deafness syndrome
| MeSH | C537363 |
| Orphanet | ORPHA:477 |
| Treatments | 0 drug(s) |
| Symptoms on record | 60 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO