CHIME syndrome
MeSH: C536729ORPHA: 3474
Overview
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy
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 CHIME syndrome, sourced from HPO and Orphanet clinical annotations.
Tall statureAbnormality of the dentitionBrachycephalyEpicanthusHypertelorismShort philtrumAbnormality of the outer earHearing impairmentDepressed nasal ridgeRetinal colobomaStrabismusPtosisHypodontiaMicrodontiaIntellectual disabilityAbnormal dental morphologyAplasia/Hypoplasia of the nipplesAbnormal dermatoglyphicsIchthyosisErythemaThick vermilion borderCleft palateUpslanted palpebral fissureSeizureTetralogy of FallotTransposition of the great arteriesShort footShort palmAbnormal epiphysis morphologyAplastic clavicleCorneal opacityAplasia/Hypoplasia of the phalanges of the handAplasia/Hypoplasia of the phalanges of the toesPulmonary valve atresiaSupernumerary toothAbnormality of the kidneyHydronephrosisAutismHyperkeratosisVentricular septal defectCerebral cortical atrophyFine hairAcute leukemiaOsteolysisHip dislocationSparse hairClubbing of toesSkin ulcer
Classification & Codes
MeSH Code
C536729Orphanet Code
ORPHA:3474CHIME syndrome
| MeSH | C536729 |
| Orphanet | ORPHA:3474 |
| Treatments | 0 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO