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

C537464

Orphanet Code

ORPHA:568
Lenz microphthalmia syndrome
MeSHC537464
OrphanetORPHA:568
Treatments0 drug(s)
Symptoms on record42 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO