Microform holoprosencephaly

ORPHA: 280200

Overview

Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage

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 Microform holoprosencephaly, sourced from HPO and Orphanet clinical annotations.

Choanal atresiaSolitary median maxillary central incisorMidnasal stenosisMicrocephalyShort philtrumNarrow nasal bridgeHypotelorismIntellectual disabilityIntrauterine growth retardationPremature birthShort statureTented upper lip vermilionAmbiguous genitaliaRenal agenesisCleft palateOrofacial cleftAnteverted naresStrabismusIris colobomaHypothyroidismPanhypopituitarismHemangiomaSeizureAgenesis of corpus callosumHoloprosencephalyTetralogy of FallotAsthmaDuodenal atresiaScoliosisShort noseEMG: myopathic abnormalitiesHypoplasia of penisCyclopiaAbnormal cardiovascular system morphology

Classification & Codes

Orphanet Code

ORPHA:280200
Microform holoprosencephaly
OrphanetORPHA:280200
Treatments0 drug(s)
Symptoms on record34 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Microform holoprosencephaly | OrphanDrug