Helsmoortel-Van Der Aa syndrome
ORPHA: 404448
Overview
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13
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 Helsmoortel-Van Der Aa syndrome, sourced from HPO and Orphanet clinical annotations.
Urinary incontinenceAutistic behaviorDelayed speech and language developmentGlobal developmental delayAbnormal speech patternReduced social responsivenessCompulsive behaviorsAnxietyAbnormal finger morphologyJoint hypermobilityGastroesophageal refluxPolyphagiaAttention deficit hyperactivity disorderFloppy infantModerate global developmental delaySevere global developmental delayAbnormal brain morphologyChronic constipationAbnormal temper tantrumsOral-pharyngeal dysphagiaRecurrent urinary tract infectionsThick lower lip vermilionThin upper lip vermilionTrigonocephalySmooth philtrumLow-set earsProtruding earAstigmatismStrabismusHypermetropiaAggressive behaviorSingle transverse palmar creasePlagiocephalyBilateral ptosisAbnormal nail morphologyAbnormal toe morphologySandal gapTruncal obesityVomitingCerebral atrophyHypoplasia of the corpus callosumVentriculomegalySleep disturbanceDevelopmental regressionRecurrent upper respiratory tract infectionsAspirationShort statureImpaired masticationAdvanced eruption of teethWide intermamillary distanceFocal white matter lesionsMicrotiaHigh anterior hairlinePolydactylyMild global developmental delayGastrostomy tube feeding in infancyAbnormal cardiovascular system morphologyCerebral visual impairmentSlanting of the palpebral fissureInguinal herniaCryptorchidismBrachycephalyMicrocephalyExotropiaIris colobomaLong palpebral fissureAmblyopiaHirsutismJuvenile cataractBrachydactylySeizureHypertoniaUmbilical herniaRespiratory distressSparse scalp hair2-3 toe syndactylyDepressed nasal bridgeGeneralized neonatal hypotoniaBroad halluxBroad thumb
Classification & Codes
Orphanet Code
ORPHA:404448Helsmoortel-Van Der Aa syndrome
| Orphanet | ORPHA:404448 |
| Treatments | 0 drug(s) |
| Symptoms on record | 80 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO