alobar holoprosencephaly
ORPHA: 93925
Overview
Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure
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 alobar holoprosencephaly, sourced from HPO and Orphanet clinical annotations.
Axial hypotoniaFlexion contractureAbnormal heart morphologyPoor speechScoliosisHip dislocationSolitary median maxillary central incisorCyclopiaSingle narisGastrostomy tube feeding in infancyCentral hypothyroidismAbnormal gastrointestinal tract morphologyProboscisAbnormal heart rate variabilityAbnormality of limbsAbnormality 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 callosum
Classification & Codes
Orphanet Code
ORPHA:93925alobar holoprosencephaly
| Orphanet | ORPHA:93925 |
| Treatments | 0 drug(s) |
| Symptoms on record | 72 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO