neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
ORPHA: 453504
Overview
human disease
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation, sourced from HPO and Orphanet clinical annotations.
Severe intellectual disabilityIncreased nuchal translucencyDelayed ability to walkCleft palateBifid uvulaCoarse facial featuresConductive hearing impairmentSensorineural hearing impairmentProtruding earUnderdeveloped nasal alaeCystic hygromaPtosisHypermetropiaMyopiaShallow orbitsAbnormal optic nerve morphologyColobomaOptic nerve hypoplasiaHypothyroidismOsteopeniaHyperhidrosisSeizureAgenesis of corpus callosumAreflexiaReduced tendon reflexesMuscle weaknessJoint hypermobilityOvergrowthAtrial septal defectBicuspid aortic valveTalipes equinovarusPes planusRecurrent feverConstipationHeat intoleranceHypoplasia of the corpus callosumExaggerated cupid's bowSupernumerary nippleEpisodic vomitingGastroparesisGastrointestinal dysmotilityHigh, narrow palateNocturnal hypoventilationInverted nipplesEasy fatigabilityVertebral segmentation defectIntestinal pseudo-obstructionSagittal craniosynostosisLambdoidal craniosynostosisPreauricular pitAortic aneurysmProminent metopic ridgeAbnormality of primary teethImpaired pain sensationEversion of lateral third of lower eyelidsFeeding difficulties in infancyBranchial anomalyTooth agenesisBifid tongueOpen biteTypical absence seizureMetopic synostosisNasogastric tube feeding in infancyType 1 muscle fiber atrophyPostaxial polydactylyLong palpebral fissureHypotoniaCryptorchidismVesicoureteral refluxHydronephrosisMacroglossiaOpen mouthMicrocephalyLong faceWide nasal bridgeBroad nasal tipDental malocclusionCraniosynostosisHip dysplasiaGrowth delayAbnormal heart morphologyVentricular septal defectGray matter heterotopiaModerate intellectual disabilityPoor speechInability to walkScoliosisExaggerated median tongue furrowDownturned corners of mouthBruxism
Classification & Codes
Orphanet Code
ORPHA:453504neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
| Orphanet | ORPHA:453504 |
| Treatments | 0 drug(s) |
| Symptoms on record | 90 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO