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:280200Microform holoprosencephaly
| Orphanet | ORPHA:280200 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO