Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
MeSH: C564570ORPHA: 86818
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 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, sourced from HPO and Orphanet clinical annotations.
Renal insufficiencyProteinuriaThin vermilion borderMalar flatteningHearing impairmentAnteverted naresStrabismusDownslanted palpebral fissuresMyopiaAbnormal metaphysis morphologyTapered fingerHypotoniaAbnormal hair morphologyPatent ductus arteriosusAbnormal aortic valve morphologyMicroscopic hematuriaElliptocytosisDepressed nasal bridgeSevere intellectual disabilitySupernumerary toothThick vermilion borderGlomerulopathy
Classification & Codes
MeSH Code
C564570Orphanet Code
ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
| MeSH | C564570 |
| Orphanet | ORPHA:86818 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO