chromosome 1p36 deletion syndrome
MeSH: C535362ORPHA: 1606
Overview
Human disease
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 chromosome 1p36 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Pointed chinLong philtrumWide nasal bridgeDeeply set eyeDelayed speech and language developmentBrachydactylyIntellectual disabilityHypotoniaGlobal developmental delayAgenesis of corpus callosumGait disturbanceAbsent speechFailure to thriveShort footVentriculomegalyCerebral cortical atrophyAbnormal speech patternEEG abnormalityPoor speechHorizontal eyebrowMidface retrusionCamptodactyly of fingerNarrow mouthBrachycephalyMicrocephalyDelayed cranial suture closureEpicanthusDepressed nasal ridgeStrabismusAbnormality of visionAbnormal eyebrow morphologyAtypical behaviorAutismMotor stereotypySeizureDysphagiaConstipationGastroesophageal refluxClinodactyly of the 5th fingerDepressed nasal bridgeHigh hypermetropiaFeeding difficulties in infancyAbnormal cardiovascular system morphologySelf-injurious behaviorCryptorchidismHypospadiasAbnormal female external genitalia morphologyAbnormality of the kidneyRenal cystHydronephrosisHypogonadismConductive hearing impairmentSensorineural hearing impairmentAbnormality of the neckVisual impairmentCataractNystagmusOptic atrophyHypothyroidism11 pairs of ribsBifid ribsRib fusionTelangiectasiaOcular albinismHip dysplasiaJoint stiffnessAbnormality of the liverHepatic steatosisObesityTetralogy of FallotPatent ductus arteriosusDilated cardiomyopathyAbnormal heart valve morphologyAbnormal cardiac septum morphologyAnnular pancreasAbnormality of the spleenFoot polydactylyFrontal bossingPyloric stenosisGeneralized hirsutismAbnormal intestine morphologyPolyphagiaScoliosisAbnormality of the immune systemKyphosisNeuroblastomaMyopathySpinal canal stenosisShort statureHemiplegia/hemiparesisAbnormality of the anusAortic arch aneurysmCranial nerve paralysisAbnormal blistering of the skinMicrotiaHypoplasia of penisMaculeLower limb asymmetryPosteriorly rotated ears
Classification & Codes
MeSH Code
C535362Orphanet Code
ORPHA:1606chromosome 1p36 deletion syndrome
| MeSH | C535362 |
| Orphanet | ORPHA:1606 |
| Treatments | 0 drug(s) |
| Symptoms on record | 99 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO