Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
ORPHA:96334Etiological subtypeInfancy, Neonatal
Ассоциированные гены3
Фенотипы (HPO)120
Облигатный (100%)1
HP:0006665Coat hanger sign of ribs
Очень частый (80–99%)5
HP:0001263Global developmental delay
HP:0001561Polyhydramnios
HP:0001999Abnormal facial shape
HP:0006267Large placenta
HP:0011968Feeding difficulties
Частый (30–79%)22
HP:0000158Macroglossia
HP:0000278Retrognathia
HP:0000470Short neck
HP:0000767Pectus excavatum
HP:0000924Abnormality of the skeletal system
HP:0001371Flexion contracture
HP:0001510Growth delay
HP:0001540Diastasis recti
HP:0001622Premature birth
HP:0002002Deep philtrum
HP:0002751Kyphoscoliosis
HP:0002866Hypoplastic iliac wing
HP:0002878Respiratory failure
HP:0005257Thoracic hypoplasia
HP:0005268Spontaneous abortion
HP:0005280Depressed nasal bridge
HP:0008551Microtia
HP:0008897Postnatal growth retardation
HP:0009826Limb undergrowth
HP:0011335Frontal hirsutism
HP:0011823Chin with horizontal crease
HP:0012745Short palpebral fissure
Периодический (5–29%)90
HP:0000028Cryptorchidism
HP:0000160Narrow mouth
HP:0000252Microcephaly
HP:0000260Wide anterior fontanel
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000322Short philtrum
HP:0000327Hypoplasia of the maxilla
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0000463Anteverted nares
HP:0000490Deeply set eye
HP:0000581Blepharophimosis
HP:0000773Short ribs
HP:0000774Narrow chest
HP:0000882Hypoplastic scapulae
HP:0000884Prominent sternum
HP:0000890Long clavicles
HP:0000907Anterior rib cupping
HP:0000919Abnormality of the costochondral junction
HP:0000946Hypoplastic ilia
HP:0000954Single transverse palmar crease
HP:0000973Cutis laxa
HP:0001181Adducted thumb
HP:0001220Interphalangeal joint contracture of finger
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001339Lissencephaly
HP:0001357Plagiocephaly
HP:0001433Hepatosplenomegaly
HP:0001520Large for gestational age
HP:0001538Protuberant abdomen
HP:0001539Omphalocele
HP:0001601Laryngomalacia
HP:0001615Hoarse cry
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001639Hypertrophic cardiomyopathy
HP:0001792Small nail
HP:0001840Metatarsus adductus
HP:0002007Frontal bossing
HP:0002057Prominent glabella
HP:0002089Pulmonary hypoplasia
HP:0002091Restrictive ventilatory defect
HP:0002092Pulmonary arterial hypertension
HP:0002240Hepatomegaly
HP:0002307Drooling
HP:0002557Hypoplastic nipples
HP:0002645Wormian bones
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002694Sclerosis of skull base
HP:0002884Hepatoblastoma
HP:0002937Hemivertebrae
HP:0002982Tibial bowing
HP:0003049Ulnar deviation of the wrist
HP:0003186Inverted nipples
HP:0003241External genital hypoplasia
HP:0004299Hernia of the abdominal wall
HP:0004322Short stature
HP:0004415Pulmonary artery stenosis
HP:0005054Metaphyseal spurs
HP:0005736Short tibia
HP:0005989Redundant neck skin
HP:0006591Absent glenoid fossa
HP:0006610Wide intermamillary distance
HP:0007685Peripheral retinal avascularization
HP:0009600Flexion contracture of thumb
HP:0009824Upper limb undergrowth
HP:0009832Abnormal distal phalanx morphology of finger
HP:0009836Broad distal phalanx of finger
HP:0010034Short 1st metacarpal
HP:0010301Spinal dysraphism
HP:0010561Undulate ribs
HP:0010655Epiphyseal stippling
HP:0010804Tented upper lip vermilion
HP:0011343Moderate global developmental delay
HP:0011344Severe global developmental delay
HP:0011471Gastrostomy tube feeding in infancy
HP:0011824Chin with H-shaped crease
HP:0012284Small proximal tibial epiphyses
HP:0012303Abnormal aortic arch morphology
HP:0012385Camptodactyly
HP:0012428Prominent calcaneus
HP:0012471Thick vermilion border
HP:0040024Clinodactyly of the 3rd finger
HP:0100864Short femoral neck
Очень редкий (1–4%)2
HP:0001511Intrauterine growth retardation
HP:0001548Overgrowth
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 37 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)