Ichthyosis follicularis with alopecia and photophobia syndrome
ICD-10: Q80.3MeSH: C536085ORPHA: 2273
Overview
Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth
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 Ichthyosis follicularis with alopecia and photophobia syndrome, sourced from HPO and Orphanet clinical annotations.
PhotophobiaIntellectual disabilitySeizureSpecific learning disabilityAbnormal hair morphologyAlopeciaIchthyosisSparse hairPapuleAbnormal eyelash morphologyAbnormal nasolacrimal system morphologyDementiaHyperkeratosisEczematoid dermatitisHypohidrosisMental deteriorationFailure to thriveGrowth delayAbnormal nail morphologyHypoplastic fingernailHyperconvex fingernailsHeat intoleranceRecurrent respiratory infectionsAbsent eyebrowDevelopmental regressionRecurrent bacterial infectionsRecurrent infectionsImmunodeficiencyAbnormality of temperature regulationErythemaFeeding difficultiesThin fingernailThin eyebrowCorneal erosionInguinal herniaCryptorchidismHydroureterAbnormality of the kidneyHydronephrosisMicrocephalyMacrotiaChoanal atresiaAstigmatismKeratitisAbnormal eyelid morphologyBlepharitisConjunctivitisMyopiaUveitisNystagmusAbnormal dental enamel morphologyAbnormality of the vertebral columnPlatyspondylyUrticariaAbnormality of the handHypotoniaAgenesis of corpus callosumCerebellar hypoplasiaAbsent septum pellucidumOmphaloceleFrontal bossingCerebral cortical atrophyAganglionic megacolonDelayed skeletal maturationKyphosisAbnormal vertebral morphologySevere short statureCorneal opacityAbnormality of the upper urinary tractSubcortical cerebral atrophyOligodactylyAbnormal pelvis bone morphologyEctrodactylyCerebral cortical hemiatrophyCamptodactyly of fingerScleritisEpiscleritisCheilitis
Classification & Codes
ICD-10 Code
Q80.3MeSH Code
C536085Orphanet Code
ORPHA:2273Ichthyosis follicularis with alopecia and photophobia syndrome
| ICD-10 | Q80.3 |
| MeSH | C536085 |
| Orphanet | ORPHA:2273 |
| Treatments | 0 drug(s) |
| Symptoms on record | 78 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO