microphthalmia–dermal aplasia–sclerocornea syndrome
ORPHA: 2556
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 microphthalmia–dermal aplasia–sclerocornea syndrome, sourced from HPO and Orphanet clinical annotations.
AnophthalmiaMicrophthalmiaSclerocorneaCongenital diaphragmatic herniaHyperpigmentation of the skinAbnormality of skin pigmentationDermal atrophyCorneal opacityAplasia/Hypoplasia of the skinErythemaMidface retrusionRetrognathiaMicrognathiaWide nasal bridgeWide noseAbnormal eyelid morphologyAbnormal eyelash morphologyAbnormality of the earAbnormal nasolacrimal system morphologyHypopigmented skin patchesHypertrophic cardiomyopathyDilated cardiomyopathyAbnormal cardiac septum morphologyAbnormal facial shapeSevere short statureAbnormal vitreous humor morphologyAbnormal retinal pigmentationMandibular aplasiaVitritisArrhythmiaAbnormal testis morphologyAbnormal penis morphologyMale pseudohermaphroditismEpispadiasHypospadiasAmbiguous genitaliaHydrocephalusMicrocephalyAbnormal earlobe morphologyHearing impairmentGlaucomaRetinal dystrophyVisual lossBlindnessPosterior embryotoxonAmblyopiaAbnormal dental enamel morphologySacral dimpleIntellectual disabilitySeizureGlobal developmental delayAgenesis of corpus callosumSpecific learning disabilityAbsent septum pellucidumFailure to thriveGrowth delayAbnormal nail morphologyMitral valve prolapseMitral regurgitationTricuspid valve prolapseAbnormal rectum morphologyDyspneaRespiratory distressStatus epilepticusMutismAphasiaRespiratory failureFunctional motor deficitAbnormality of the anusTricuspid regurgitationChorioretinal dysplasiaRetinal dysplasiaClitoral hypertrophyEcholaliaAbnormal fallopian tube morphologyCleft earlobeFeeding difficulties
Classification & Codes
Orphanet Code
ORPHA:2556microphthalmia–dermal aplasia–sclerocornea syndrome
| Orphanet | ORPHA:2556 |
| Treatments | 0 drug(s) |
| Symptoms on record | 77 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO