Wiedemann-Rautenstrauch syndrome

ORPHA:3455 · Malformation syndrome · Disorder

HPO 表現型（共 127 項）

Very frequent (99-80%)(30)

Broad foreheadHP:0000337
Congenital generalized lipodystrophyHP:0009059
Convex nasal ridgeHP:0000444
Deeply set eyeHP:0000490
Downturned corners of mouthHP:0002714
EntropionHP:0000621
Frontal bossingHP:0002007
HypertelorismHP:0000316
Intrauterine growth retardationHP:0001511
LipoatrophyHP:0100578
Loss of facial adipose tissueHP:0000292
Malar flatteningHP:0000272
Narrow mouthHP:0000160
Natal toothHP:0000695
Pointed chinHP:0000307
Posteriorly rotated earsHP:0000358
Progeroid facial appearanceHP:0005328
Prominent scalp veinsHP:0001043
Reduced subcutaneous adipose tissueHP:0003758
Relative macrocephalyHP:0004482
RetrognathiaHP:0000278
Severe intrauterine growth retardationHP:0008846
Short philtrumHP:0000322
Short statureHP:0004322
Slender buildHP:0001533
Sparse scalp hairHP:0002209
Thin upper lip vermilionHP:0000219
Triangular faceHP:0000325
Upslanted palpebral fissureHP:0000582
Widely patent fontanelles and suturesHP:0004492

Frequent (79-30%)(61)

Abnormality of the dentitionHP:0000164
Abnormality of the earHP:0000598
Acanthosis nigricansHP:0000956
Aplasia/Hypoplasia of the nailsHP:0008386
Caesarean sectionHP:0011410
Camptodactyly of fingerHP:0100490
CataractHP:0000518
CNS hypomyelinationHP:0003429
ConfusionHP:0001289
Corneal opacityHP:0007957
Cranial asymmetryHP:0000267
CryptorchidismHP:0000028
Decreased response to growth hormone stimulation testHP:0000824
Dermal translucencyHP:0010648
Failure to thriveHP:0001508
Feeding difficultiesHP:0011968
FeverHP:0001945
Global developmental delayHP:0001263
Growth delayHP:0001510
Hearing abnormalityHP:0000364
Hepatic steatosisHP:0001397
Hip dysplasiaHP:0001385
HirsutismHP:0001007
HydrocephalusHP:0000238
HydronephrosisHP:0000126
HypermetropiaHP:0000540
HypertoniaHP:0001276
HypertriglyceridemiaHP:0002155
HypodontiaHP:0000668
Hypogonadotropic hypogonadismHP:0000044
Increased circulating prolactin concentrationHP:0000870
Increased subcutaneous truncal adipose tissueHP:0009003
Irregular sclerotic endplatesHP:0008476
Joint hypermobilityHP:0001382
KyphoscoliosisHP:0002751
LeukodystrophyHP:0002415
Limb hypertoniaHP:0002509
Long fingersHP:0100807
Long toeHP:0010511
Low-set earsHP:0000369
Moderate intellectual disabilityHP:0002342
MyalgiaHP:0003326
MyopiaHP:0000545
OsteopeniaHP:0000938
Premature loss of teethHP:0006480
Premature skin wrinklingHP:0100678
Recurrent otitis mediaHP:0000403
Recurrent skin infectionsHP:0001581
Short femurHP:0003097
Short humerusHP:0005792
Skeletal muscle hypertrophyHP:0003712
Sparse hairHP:0008070
SpasticityHP:0001257
Submucous cleft soft palateHP:0011819
SynophrysHP:0000664
SynovitisHP:0100769
Thickened calvariaHP:0002684
Thin long bone diaphysesHP:0006470
Thin skinHP:0000963
Truncal ataxiaHP:0002078
Wide nasal ridgeHP:0012811

Occasional (29-5%)(26)

2-3 toe syndactylyHP:0004691
Abnormal corpus striatum morphologyHP:0010994
Absent earlobeHP:0000387
Action tremorHP:0002345
Agenesis of corpus callosumHP:0001274
Anteverted naresHP:0000463
AtaxiaHP:0001251
Atlantoaxial abnormalityHP:0003413
Cerebellar hypoplasiaHP:0001321
Cervical vertebral dysplasiaHP:0008469
Chiari type I malformationHP:0007099
Dilatation of renal calicesHP:0100581
GynecomastiaHP:0000771
Hypoplastic iliaHP:0000946
Hypoplastic vertebral bodiesHP:0008479
LaryngomalaciaHP:0001601
NystagmusHP:0000639
Optic atrophyHP:0000648
Pigmentary retinopathyHP:0000580
PolymicrogyriaHP:0002126
Pulmonic stenosisHP:0001642
Recurrent urinary tract infectionsHP:0000010
SeizureHP:0001250
TremorHP:0001337
Vesicoureteral refluxHP:0000076
Wide penisHP:0030265

Very rare (<4-1%)(10)

Blue scleraeHP:0000592
Congenital malformation of the left heartHP:0045017
Dysplastic pulmonary valveHP:0005164
HyperthyroidismHP:0000836
HypospadiasHP:0000047
Increased serum estradiolHP:0025134
Increased serum testosterone levelHP:0030088
LagophthalmosHP:0030001
Optic disc hypoplasiaHP:0007766
Type II diabetes mellitusHP:0005978