Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14

ORPHA:96334 · Etiological subtype · Subtype of disorder

HPO 表現型（共 120 項）

Obligate (100%)(1)

Coat hanger sign of ribsHP:0006665

Very frequent (99-80%)(5)

Abnormal facial shapeHP:0001999
Feeding difficultiesHP:0011968
Global developmental delayHP:0001263
Large placentaHP:0006267
PolyhydramniosHP:0001561

Frequent (79-30%)(22)

Abnormality of the skeletal systemHP:0000924
Chin with horizontal creaseHP:0011823
Deep philtrumHP:0002002
Depressed nasal bridgeHP:0005280
Diastasis rectiHP:0001540
Flexion contractureHP:0001371
Frontal hirsutismHP:0011335
Growth delayHP:0001510
Hypoplastic iliac wingHP:0002866
KyphoscoliosisHP:0002751
Limb undergrowthHP:0009826
MacroglossiaHP:0000158
MicrotiaHP:0008551
Pectus excavatumHP:0000767
Postnatal growth retardationHP:0008897
Premature birthHP:0001622
Respiratory failureHP:0002878
RetrognathiaHP:0000278
Short neckHP:0000470
Short palpebral fissureHP:0012745
Spontaneous abortionHP:0005268
Thoracic hypoplasiaHP:0005257

Occasional (29-5%)(90)

Abnormal aortic arch morphologyHP:0012303
Abnormal distal phalanx morphology of fingerHP:0009832
Abnormality of the costochondral junctionHP:0000919
Absent glenoid fossaHP:0006591
Adducted thumbHP:0001181
Anterior rib cuppingHP:0000907
Anteverted naresHP:0000463
Atrial septal defectHP:0001631
Avascular peripheral retinaHP:0007685
BlepharophimosisHP:0000581
Broad distal phalanx of fingerHP:0009836
CamptodactylyHP:0012385
Chin with H-shaped creaseHP:0011824
Clinodactyly of the 3rd fingerHP:0040024
Coxa valgaHP:0002673
CryptorchidismHP:0000028
Cutis laxaHP:0000973
Deeply set eyeHP:0000490
DroolingHP:0002307
EpicanthusHP:0000286
Epiphyseal stipplingHP:0010655
External genital hypoplasiaHP:0003241
Frontal bossingHP:0002007
Gastrostomy tube feeding in infancyHP:0011471
HemivertebraeHP:0002937
HepatoblastomaHP:0002884
HepatomegalyHP:0002240
HepatosplenomegalyHP:0001433
Hernia of the abdominal wallHP:0004299
Hoarse cryHP:0001615
Hypertrophic cardiomyopathyHP:0001639
Hypoplasia of the maxillaHP:0000327
Hypoplastic iliaHP:0000946
Hypoplastic nipplesHP:0002557
Hypoplastic scapulaeHP:0000882
HypotoniaHP:0001252
Interphalangeal joint contracture of fingerHP:0001220
Inverted nipplesHP:0003186
Large for gestational ageHP:0001520
LaryngomalaciaHP:0001601
LissencephalyHP:0001339
Long clavicleHP:0000890
Long philtrumHP:0000343
Mandibular prognathiaHP:0000303
Metaphyseal spursHP:0005054
Metatarsus adductusHP:0001840
MicrocephalyHP:0000252
MicrognathiaHP:0000347
Moderate global developmental delayHP:0011343
Narrow chestHP:0000774
Narrow mouthHP:0000160
OmphaloceleHP:0001539
PlagiocephalyHP:0001357
Posteriorly rotated earsHP:0000358
Prominent calcaneusHP:0012428
Prominent glabellaHP:0002057
Prominent sternumHP:0000884
Protuberant abdomenHP:0001538
Pulmonary arterial hypertensionHP:0002092
Pulmonary artery stenosisHP:0004415
Pulmonary hypoplasiaHP:0002089
Redundant neck skinHP:0005989
Restrictive ventilatory defectHP:0002091
Sclerosis of skull baseHP:0002694
ScoliosisHP:0002650
SeizureHP:0001250
Severe global developmental delayHP:0011344
Short 1st metacarpalHP:0010034
Short femoral neckHP:0100864
Short philtrumHP:0000322
Short ribsHP:0000773
Short statureHP:0004322
Short tibiaHP:0005736
Single transverse palmar creaseHP:0000954
Small nailHP:0001792
Small proximal tibial epiphysesHP:0012284
Spinal dysraphismHP:0010301
Tented upper lip vermilionHP:0010804
Thick vermilion borderHP:0012471
Thumb contractureHP:0009600
Tibial bowingHP:0002982
Ulnar deviation of the wristHP:0003049
Undulate ribsHP:0010561
Upper limb undergrowthHP:0009824
Ventricular septal defectHP:0001629
Wide anterior fontanelHP:0000260
Wide intermamillary distanceHP:0006610
Wide nasal bridgeHP:0000431
Wide noseHP:0000445
Wormian bonesHP:0002645

Very rare (<4-1%)(2)

Intrauterine growth retardationHP:0001511
OvergrowthHP:0001548