Lenz microphthalmia syndrome
MeSH: C537464ORPHA: 568
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 Lenz microphthalmia syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal pinna morphologyPosteriorly rotated earsMicrophthalmiaCryptorchidismHypospadiasHydroureterHydronephrosisAbnormality of the dentitionOrofacial cleftMicrocephalyMicrocorneaGlaucomaChorioretinal colobomaOptic disc colobomaIris colobomaIntellectual disabilityClinodactyly of the 5th fingerShort statureFinger syndactylyAbnormal dental morphologyRenal hypoplasia/aplasiaComplete duplication of thumb phalanxCamptodactyly of fingerHearing impairmentPreauricular skin tagWebbed neckVisual impairmentCataractNystagmusDelayed eruption of teethAbnormal clavicle morphologySeizureAbnormal speech patternScoliosisKyphosisAbnormal shoulder morphologyHyperlordosisAplasia/Hypoplasia of the corpus callosumAnkyloblepharonAbnormal cardiovascular system morphologySelf-injurious behaviorLong thorax
Classification & Codes
MeSH Code
C537464Orphanet Code
ORPHA:568Lenz microphthalmia syndrome
| MeSH | C537464 |
| Orphanet | ORPHA:568 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO