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Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
ORPHA:444077 · Malformation syndrome · Disorder
HPO 表現型（共 79 項）
Very frequent (99-80%)(10)
- Abnormal skeletal morphologyHP:0011842
- Abnormality of the respiratory systemHP:0002086
- Anteverted naresHP:0000463
- Global developmental delayHP:0001263
- Highly arched eyebrowHP:0002553
- Intellectual disabilityHP:0001249
- Long eyelashesHP:0000527
- ObesityHP:0001513
- Short statureHP:0004322
- SynophrysHP:0000664
Frequent (79-30%)(14)
- Abnormal heart morphologyHP:0001627
- Abnormal vertebral morphologyHP:0003468
- Aspiration pneumoniaHP:0011951
- BrachydactylyHP:0001156
- Chronic lung diseaseHP:0006528
- ConstipationHP:0002019
- Gastroesophageal refluxHP:0002020
- Gastrostomy tube feeding in infancyHP:0011471
- Hearing impairmentHP:0000365
- MicrocephalyHP:0000252
- Patent ductus arteriosusHP:0001643
- Round faceHP:0000311
- Thick hairHP:0100874
- Ventricular septal defectHP:0001629
Occasional (29-5%)(55)
- Abnormal fingernail morphologyHP:0001231
- Abnormal toenail morphologyHP:0008388
- Acanthosis nigricansHP:0000956
- AmblyopiaHP:0000646
- Aortic root aneurysmHP:0002616
- AsthmaHP:0002099
- CataractHP:0000518
- Cervical C2/C3 vertebral fusionHP:0004602
- Conductive hearing impairmentHP:0000405
- Congestive heart failureHP:0001635
- Cupped earHP:0000378
- Curly hairHP:0002212
- Decreased response to growth hormone stimulation testHP:0000824
- Downslanted palpebral fissuresHP:0000494
- Downturned corners of mouthHP:0002714
- ExophoriaHP:0025313
- Facial hirsutismHP:0009937
- Fibular hypoplasiaHP:0003038
- Full cheeksHP:0000293
- GlossoptosisHP:0000162
- GynecomastiaHP:0000771
- High palateHP:0000218
- Hip subluxationHP:0030043
- Horseshoe kidneyHP:0000085
- HyperglycemiaHP:0003074
- Hypoplasia of proximal radiusHP:0006434
- Hypoplastic toenailsHP:0001800
- HypospadiasHP:0000047
- HypothyroidismHP:0000821
- LaryngomalaciaHP:0001601
- Long philtrumHP:0000343
- MacroglossiaHP:0000158
- MicrognathiaHP:0000347
- Mixed hearing impairmentHP:0000410
- MyopiaHP:0000545
- Narrow foreheadHP:0000341
- Patent foramen ovaleHP:0001655
- PlagiocephalyHP:0001357
- Posteriorly rotated earsHP:0000358
- ProptosisHP:0000520
- PtosisHP:0000508
- Pulmonary arterial hypertensionHP:0002092
- Sensorineural hearing impairmentHP:0000407
- Short noseHP:0003196
- Sleep apneaHP:0010535
- Small handHP:0200055
- StrabismusHP:0000486
- Subglottic stenosisHP:0001607
- Thick eyebrowHP:0000574
- Thickened earsHP:0009894
- Thin upper lip vermilionHP:0000219
- TracheomalaciaHP:0002779
- Vertical forehead creasesHP:0011221
- Vesicoureteral refluxHP:0000076
- Wormian bonesHP:0002645