facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
ORPHA: 284169
Overview
human disease
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion, sourced from HPO and Orphanet clinical annotations.
Ventricular septal defectPulmonic stenosisPatent ductus arteriosusBicuspid aortic valveCoarctation of aortaVentricular hypertrophyHypoplasia of the corpus callosumVentriculomegalyCeliac diseaseShort noseDepressed nasal bridgeAbsent cupid's bowProminent foreheadVisual impairmentAtypical behaviorDelayed speech and language developmentIntellectual disabilityGlobal developmental delayMotor delayAbnormal heart morphologyAttention deficit hyperactivity disorderAbnormal brain morphologyFull cheeksAstigmatismStrabismusAggressive behaviorAnxietySeizureNeonatal hypotoniaConstipationSleep disturbanceFeeding difficultiesShort palpebral fissurePosteriorly rotated earsHearing impairmentBulbous noseChoanal atresiaDeeply set eyeDownslanted palpebral fissuresHypermetropiaMyopiaChorioretinal colobomaAmblyopiaSynophrysAutistic behaviorCerebellar hypoplasia
Classification & Codes
Orphanet Code
ORPHA:284169facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
| Orphanet | ORPHA:284169 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO