Rubinstein-Taybi syndrome due to CREBBP mutations

ORPHA:353277 · Etiological subtype · Subtype of disorder

HPO 表現型（共 122 項）

Very frequent (99-80%)(16)

Abnormal facial shapeHP:0001999
Broad halluxHP:0010055
Broad thumbHP:0011304
Delayed speech and language developmentHP:0000750
Downslanted palpebral fissuresHP:0000494
Facial grimacingHP:0000273
High palateHP:0000218
Highly arched eyebrowHP:0002553
HypertelorismHP:0000316
Intellectual disabilityHP:0001249
Low-set earsHP:0000369
MicrognathiaHP:0000347
Neurodevelopmental delayHP:0012758
Postnatal growth retardationHP:0008897
Prominent nasal septumHP:0005322
Widened distal phalangesHP:0006200

Frequent (79-30%)(32)

Abnormal cardiovascular system morphologyHP:0030680
Abnormal fear-induced behaviorHP:0100852
Abnormal heart morphologyHP:0001627
Abnormal proximal phalanx morphology of the handHP:0009834
Abnormality of the eyeHP:0000478
Abnormality of the genitourinary systemHP:0000119
Abnormality of the kidneyHP:0000077
AgoraphobiaHP:0000756
Atypical behaviorHP:0000708
Brain imaging abnormalityHP:0410263
Broad distal phalanx of fingerHP:0009836
Compulsive behaviorsHP:0000722
ConstipationHP:0002019
Convex nasal ridgeHP:0000444
CryptorchidismHP:0000028
Emotional labilityHP:0000712
Failure to thriveHP:0001508
Feeding difficulties in infancyHP:0008872
ImpulsivityHP:0100710
Laryngeal cartilage malformationHP:0008752
Low hanging columellaHP:0009765
Motor stereotypyHP:0000733
Narrow palateHP:0000189
ObesityHP:0001513
Obstructive sleep apneaHP:0002870
Panic attackHP:0025269
PtosisHP:0000508
Recurrent respiratory infectionsHP:0002205
Reduced social responsivenessHP:0012760
Short statureHP:0004322
Social and occupational deteriorationHP:0007086
Talon cuspHP:0011087

Occasional (29-5%)(55)

Abnormal corpus callosum morphologyHP:0001273
Abnormal curvature of the vertebral columnHP:0010674
Abnormal lateral ventricle morphologyHP:0030047
Abnormal posterior cranial fossa morphologyHP:0000932
Abnormal subclavian artery morphologyHP:0031251
Abnormality of the cervical spineHP:0003319
Abnormality of the urinary systemHP:0000079
Absent speechHP:0001344
Adducted thumbHP:0001181
Aggressive behaviorHP:0000718
AspirationHP:0002835
Atrial septal defectHP:0001631
Avascular necrosis of the capital femoral epiphysisHP:0005743
Cardiac conduction abnormalityHP:0031546
Carious teethHP:0000670
Chiari malformationHP:0002308
Chiari type I malformationHP:0007099
Conductive hearing impairmentHP:0000405
Corneal scarringHP:0000559
Delayed myelinationHP:0012448
Dental crowdingHP:0000678
Dental malocclusionHP:0000689
Deviation of the halluxHP:0010051
Gastroesophageal refluxHP:0002020
GlaucomaHP:0000501
Hip dysplasiaHP:0001385
Hydrocele testisHP:0000034
HydronephrosisHP:0000126
HyperactivityHP:0000752
HypermetropiaHP:0000540
HypodontiaHP:0000668
HypospadiasHP:0000047
HypotoniaHP:0001252
Intrauterine growth retardationHP:0001511
Joint hypermobilityHP:0001382
Kidney stoneHP:0000787
MeningiomaHP:0002858
Nasogastric tube feeding in infancyHP:0011470
Nasolacrimal duct obstructionHP:0000579
NystagmusHP:0000639
Otitis mediaHP:0000388
Patellar dislocationHP:0002999
Patent ductus arteriosusHP:0001643
Patent foramen ovaleHP:0001655
PneumoniaHP:0002090
PolydactylyHP:0010442
PolyhydramniosHP:0001561
Recurrent urinary tract infectionsHP:0000010
Self-injurious behaviorHP:0100716
StrabismusHP:0000486
Supernumerary toothHP:0011069
SyndactylyHP:0001159
TrichiasisHP:0001128
Ventricular septal defectHP:0001629
Vesicoureteral refluxHP:0000076

Very rare (<4-1%)(19)

Aortic valve stenosisHP:0001650
AsthmaHP:0002099
Bicuspid aortic valveHP:0001647
CataractHP:0000518
Cellular immunodeficiencyHP:0005374
Cervical cord compressionHP:0002341
Coarctation of aortaHP:0001680
ColobomaHP:0000589
EEG abnormalityHP:0002353
Humoral immunodeficiencyHP:0005363
Intestinal malrotationHP:0002566
KeloidsHP:0010562
Natal toothHP:0000695
PilomatrixomaHP:0030434
Pulmonic stenosisHP:0001642
SeizureHP:0001250
Sensorineural hearing impairmentHP:0000407
SyringomyeliaHP:0003396
Vascular ringHP:0010775