Semilobar holoprosencephaly

ORPHA: 220386

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly

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 Semilobar holoprosencephaly, sourced from HPO and Orphanet clinical annotations.

Abnormality of the eyeHypotelorismFailure to thriveGrowth delayPoor suckShort statureFeeding difficultiesMedian cleft upper lipCleft palateBifid uvulaHigh palateMicrocephalySensorineural hearing impairmentDepressed nasal ridgeAtypical behaviorDepressionIrritabilityAnxietyApathyIntellectual disabilitySeizureLethargySpasticitySpecific learning disabilityAbsent speechVomitingDysphagiaConstipationGastroesophageal refluxAbnormality of the autonomic nervous systemAbnormal brainstem morphologyLimb dystoniaInability to walkAbnormal pattern of respirationCentral apneaTemperature instabilityChronic lung diseaseSleep-wake cycle disturbanceAttention deficit hyperactivity disorderOromotor apraxiaFloppy infantAplasia of the falx cerebriAbnormal central motor functionAspiration pneumoniaAbnormal hypothalamus physiologyAbnormal morphology of the olfactory bulbNeural tube defectCerebral visual impairmentAbnormality of the genitourinary systemHydrocephalusMacrocephalyAbnormality of the endocrine systemDecreased response to growth hormone stimulation testPanhypopituitarismDiabetes insipidusAbnormality of the skeletal systemAgenesis of corpus callosumFlexion contractureAbnormal heart morphologyPoor speechScoliosisHip dislocationSolitary median maxillary central incisorAxial hypotoniaCyclopiaSingle narisGastrostomy tube feeding in infancyCentral hypothyroidismAbnormal gastrointestinal tract morphologyProboscisAbnormal heart rate variabilityAbnormality of limbs

Classification & Codes

Orphanet Code

ORPHA:220386

Semilobar holoprosencephaly

Orphanet	`ORPHA:220386`
Treatments	0 drug(s)
Symptoms on record	72 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO