chromosome 18q deletion syndrome
MeSH: C536580ORPHA: 1600
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 18q deletion syndrome, sourced from HPO and Orphanet clinical annotations.
MicropenisMandibular prognathiaMacrotiaAbnormal retinal morphologyMyopiaAbnormal palmar dermatoglyphicsArachnodactylyTapered fingerIntellectual disabilityMild intellectual disabilityGlobal developmental delayNeonatal hypotoniaGrowth delayPatent ductus arteriosusTalipes equinovarusPes planusAbnormal facial shapeIncoordinationDownturned corners of mouthDelayed skeletal maturationKyphoscoliosisShort staturePulmonary valve defectsDepressed nasal bridgeDiffuse white matter abnormalitiesSecondary growth hormone deficiencyBilateral conductive hearing impairmentBilateral cryptorchidismAbnormal myelinationWide mouthOpen mouthHigh palateHydrocephalusMicrocephalyEpicanthusLow anterior hairlineShort philtrumSensorineural hearing impairmentBulbous noseProminent noseChoanal stenosisStrabismusDownslanted palpebral fissuresPectus excavatumHypothyroidismSeizureChoreoathetosisCerebellar hypoplasiaJoint hypermobilityFailure to thriveSlender buildCongestive heart failureAortic valve stenosisMitral regurgitationSecundum atrial septal defectDecreased circulating IgA concentrationBiparietal narrowingAortic aneurysmAbsence of the pulmonary valveDysplastic pulmonary valveLeft aortic arch with right descending aorta and right ductus arteriosusLeft-to-right shuntThick vermilion borderAtlantoaxial abnormalityAstrocytoma
Classification & Codes
MeSH Code
C536580Orphanet Code
ORPHA:1600chromosome 18q deletion syndrome
| MeSH | C536580 |
| Orphanet | ORPHA:1600 |
| Treatments | 0 drug(s) |
| Symptoms on record | 65 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO