Toriello-Lacassie-Droste syndrome

MeSH: C563969ORPHA: 3339

Overview

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital

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 Toriello-Lacassie-Droste syndrome, sourced from HPO and Orphanet clinical annotations.

HypospadiasEyelid colobomaAbnormal facial shapeAbnormal conjunctiva morphologyLimbal dermoidAgenesis of corpus callosumAbsent septum pellucidumGeneralized hyperpigmentationAplasia/Hypoplasia of the skinAbnormal nervous system morphologyAbnormality of the ureterMacrocephalyEpicanthusHearing impairmentAnteverted naresStrabismusTelecanthusProptosisBlepharophimosisAbnormality of the earBrachydactylyHypotoniaFailure to thriveGrowth delayPolyhydramniosAbnormality of the cardiovascular systemAganglionic megacolonShort noseShort palmLaryngeal hypoplasiaFeeding difficultiesShort palpebral fissureAbnormal cardiovascular system morphologyAbnormality of the bladderAbnormal penis morphologyEpispadias

Classification & Codes

MeSH Code

C563969

Orphanet Code

ORPHA:3339
Toriello-Lacassie-Droste syndrome
MeSHC563969
OrphanetORPHA:3339
Treatments0 drug(s)
Symptoms on record36 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO