autosomal dominant keratitis-ichthyosis-deafness syndrome
ORPHA: 477
Overview
autosomal dominant disease characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material basis in heterozygous mutation in the GJB2 gene on chromosome 13q
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 autosomal dominant 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
Orphanet Code
ORPHA:477autosomal dominant keratitis-ichthyosis-deafness syndrome
| 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