Jacobsen syndrome
ORPHA:2308Malformation syndromeNot applicable, UnknownAntenatal
Ассоциированные гены1
Фенотипы (HPO)76
Очень частый (80–99%)6
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0001873Thrombocytopenia
HP:0005528Bone marrow hypocellularity
HP:0008872Feeding difficulties in infancy
Частый (30–79%)36
HP:0000028Cryptorchidism
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000324Facial asymmetry
HP:0000343Long philtrum
HP:0000348High forehead
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000482Microcornea
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000921Missing ribs
HP:0001622Premature birth
HP:0001629Ventricular septal defect
HP:0001763Pes planus
HP:0001770Toe syndactyly
HP:0001831Short toe
HP:0001847Long hallux
HP:0001863Toe clinodactyly
HP:0002007Frontal bossing
HP:0002019Constipation
HP:0002119Ventriculomegaly
HP:0002205Recurrent respiratory infections
HP:0003196Short nose
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0006101Finger syndactyly
HP:0007018Attention deficit hyperactivity disorder
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0010059Broad hallux phalanx
HP:0010761Broad columella
HP:0100840Aplasia/Hypoplasia of the eyebrow
HP:0000358Posteriorly rotated ears
Периодический (5–29%)34
HP:0001511Intrauterine growth retardation
HP:0001522Death in infancy
HP:0001650Aortic valve stenosis
HP:0001680Coarctation of aorta
HP:0000003Multicystic kidney dysplasia
HP:0000023Inguinal hernia
HP:0000126Hydronephrosis
HP:0000174Abnormal palate morphology
HP:0000243Trigonocephaly
HP:0000431Wide nasal bridge
HP:0000465Webbed neck
HP:0000518Cataract
HP:0000612Iris coloboma
HP:0000625Eyelid coloboma
HP:0000656Ectropion
HP:0000964Eczematoid dermatitis
HP:0001161Hand polydactyly
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001302Pachygyria
HP:0001734Annular pancreas
HP:0001883Talipes
HP:0002021Pyloric stenosis
HP:0002059Cerebral atrophy
HP:0002247Duodenal atresia
HP:0002414Spina bifida
HP:0002566Intestinal malrotation
HP:0002650Scoliosis
HP:0002827Hip dislocation
HP:0004378Abnormality of the anus
HP:0004383Hypoplastic left heart
HP:0004397Ectopic anus
HP:0007302Bipolar affective disorder
HP:0100753Schizophrenia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.5 | United States | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)