neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
ORPHA: 453499
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 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the genitourinary systemHydronephrosisLong faceCoarse facial featuresWide nasal bridgeLong palpebral fissureDelayed speech and language developmentIntellectual disabilityHypotoniaMotor delayAbnormal heart morphologyPoor speechAbnormal helix morphologyCryptorchidismVesicoureteral refluxCleft palateOpen mouthHigh palateFurrowed tongueMicrocephalyHearing impairmentUnderdeveloped nasal alaePtosisShallow orbitsReduced tendon reflexesCraniosynostosisHip dysplasiaFailure to thriveIntrauterine growth retardationVentricular septal defectTalipesConstipationGastroesophageal refluxHypoplasia of the corpus callosumGastrointestinal dysmotilityScoliosisDownturned corners of mouthInverted nipplesVertebral segmentation defectProminent metopic ridgeIncreased nuchal translucencyAbnormal autonomic nervous system physiologyMacroglossiaBifid uvulaCystic hygromaColobomaHorizontal nystagmusOligodontiaHypothyroidismOsteopeniaSeizureAreflexiaMuscle weaknessPlagiocephalyAtrial septal defectBicuspid aortic valveRecurrent feverHeat intolerancePleural effusionGray matter heterotopiaSyringomyeliaBruxismPreauricular pitAscending tubular aorta aneurysmAtrioventricular canal defectImpaired pain sensationHypohidrosis or hyperhidrosisBranchial anomalyNasogastric tube feeding in infancyAbnormal bladder morphologyAbnormality of the gastrointestinal tract
Classification & Codes
Orphanet Code
ORPHA:453499neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
| Orphanet | ORPHA:453499 |
| Treatments | 0 drug(s) |
| Symptoms on record | 71 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO