lobar holoprosencephaly
ORPHA: 93924
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 lobar holoprosencephaly, sourced from HPO and Orphanet clinical annotations.
Axial hypotoniaHypotelorismFeeding difficultiesMedian cleft upper lipCleft palateHigh palateSensorineural hearing impairmentDepressed nasal ridgeAbnormality of the eyeAtypical behaviorDepressionIrritabilityAnxietyAbnormality of the endocrine systemDiabetes insipidusIntellectual disabilitySpecific learning disabilityFailure to thriveGrowth delayConstipationGastroesophageal refluxPoor suckAbnormality of the autonomic nervous systemPoor speechShort statureChronic lung diseaseSleep-wake cycle disturbanceAttention deficit hyperactivity disorderAbnormal central motor functionAspiration pneumoniaAbnormal hypothalamus physiologyAbnormality of the genitourinary systemBifid uvulaHydrocephalusMicrocephalyMacrocephalyApathyDecreased response to growth hormone stimulation testPanhypopituitarismAbnormality of the skeletal systemSeizureLethargySpasticityAgenesis of corpus callosumAbnormal heart morphologyVomitingDysphagiaAbnormal brainstem morphologyLimb dystoniaScoliosisAbnormal pattern of respirationHip dislocationCentral apneaTemperature instabilityOromotor apraxiaFloppy infantAplasia of the falx cerebriGastrostomy tube feeding in infancyCentral hypothyroidismAbnormal gastrointestinal tract morphologyAbnormal heart rate variabilityAbnormality of limbsAbnormal morphology of the olfactory bulbCerebral visual impairmentAbsent speechFlexion contractureInability to walkSolitary median maxillary central incisorCyclopiaSingle narisProboscisNeural tube defect
Classification & Codes
Orphanet Code
ORPHA:93924lobar holoprosencephaly
| Orphanet | ORPHA:93924 |
| Treatments | 0 drug(s) |
| Symptoms on record | 72 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO