ROHHAD
ORPHA: 293987
Overview
medical condition
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 ROHHAD, sourced from HPO and Orphanet clinical annotations.
MacrocephalyHypertelorismSensorineural hearing impairmentAnteverted naresDecreased lacrimationAutistic behaviorDecreased response to growth hormone stimulation testAbnormality of the hypothalamus-pituitary axisCyanosisHypohidrosisObesityModerate intellectual disabilityAbnormal midbrain morphologyPolyphagiaHypoventilationHyponatremiaElevated circulating hepatic transaminase concentrationHyperglycemiaHyperlipidemiaDepressed nasal bridgeCentral hypoventilationGonadotropin deficiencyProminent foreheadCentral hypothyroidismFeeding difficultiesAbnormal autonomic nervous system physiologyPremature adrenarcheWidened subarachnoid spaceReduced social responsivenessEverted lower lip vermilionAggressive behaviorCentral diabetes insipidusIncreased circulating prolactin concentrationGlobal developmental delayFeverPolydipsiaHypothermiaAsthmaDevelopmental regressionGastrointestinal dysmotilityScoliosisRecurrent lower respiratory tract infectionsRecurrent upper respiratory tract infectionsObstructive sleep apneaGanglioneuromaShort statureAccelerated skeletal maturationGanglioneuroblastomaImpaired pain sensationAbnormal pupillary light reflexAdrenocorticotropic hormone deficiencyPsychosisEmotional labilityDepressionCompulsive behaviorsEnuresisDelayed pubertyBrachydactylySeizureGeneralized hypotoniaInfectious encephalitisCeliac diseaseCardiorespiratory arrestCataplexySelf-injurious behavior
Classification & Codes
Orphanet Code
ORPHA:293987ROHHAD
| Orphanet | ORPHA:293987 |
| Treatments | 0 drug(s) |
| Symptoms on record | 65 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO