cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
ORPHA: 444077
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 cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome, sourced from HPO and Orphanet clinical annotations.
Anteverted naresLong eyelashesSynophrysIntellectual disabilityGlobal developmental delayObesityAbnormality of the respiratory systemHighly arched eyebrowShort statureAbnormal skeletal morphologyMicrocephalyRound faceHearing impairmentBrachydactylyAbnormal heart morphologyVentricular septal defectPatent ductus arteriosusConstipationGastroesophageal refluxAbnormal vertebral morphologyChronic lung diseaseGastrostomy tube feeding in infancyAspiration pneumoniaThick hairHypospadiasVesicoureteral refluxHorseshoe kidneyMacroglossiaGlossoptosisHigh palateThin upper lip vermilionFull cheeksNarrow foreheadLong philtrumMicrognathiaPosteriorly rotated earsCupped earConductive hearing impairmentSensorineural hearing impairmentMixed hearing impairmentStrabismusDownslanted palpebral fissuresPtosisCataractProptosisMyopiaThick eyebrowAmblyopiaGynecomastiaHypothyroidismDecreased response to growth hormone stimulation testAcanthosis nigricansAbnormal fingernail morphologyPlagiocephalyLaryngomalaciaSubglottic stenosisCongestive heart failurePatent foramen ovaleHypoplastic toenailsPulmonary arterial hypertensionAsthmaCurly hairAortic root aneurysmWormian bonesDownturned corners of mouthTracheomalaciaFibular hypoplasiaHyperglycemiaShort noseCervical C2/C3 vertebral fusionHypoplasia of proximal radiusAbnormal toenail morphologyThickened earsFacial hirsutismSleep apneaVertical forehead creasesExophoriaHip subluxationSmall hand
Classification & Codes
Orphanet Code
ORPHA:444077cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
| Orphanet | ORPHA:444077 |
| Treatments | 0 drug(s) |
| Symptoms on record | 79 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO