Takenouchi-Kosaki syndrome
ORPHA:487796Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)71
Очень частый (80–99%)2
HP:0001999Abnormal facial shape
HP:0410263Brain imaging abnormality
Частый (30–79%)13
HP:0000119Abnormality of the genitourinary system
HP:0000766Abnormal sternum morphology
HP:0000818Abnormality of the endocrine system
HP:0001249Intellectual disability
HP:0001627Abnormal heart morphology
HP:0001873Thrombocytopenia
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002518Abnormal periventricular white matter morphology
HP:0002650Scoliosis
HP:0002719Recurrent infections
HP:0008897Postnatal growth retardation
HP:0011877Increased mean platelet volume
Периодический (5–29%)56
HP:0000023Inguinal hernia
HP:0000047Hypospadias
HP:0000122Unilateral renal agenesis
HP:0000126Hydronephrosis
HP:0000154Wide mouth
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000322Short philtrum
HP:0000341Narrow forehead
HP:0000343Long philtrum
HP:0000358Posteriorly rotated ears
HP:0000365Hearing impairment
HP:0000414Bulbous nose
HP:0000431Wide nasal bridge
HP:0000454Flared nostrils
HP:0000465Webbed neck
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000577Exotropia
HP:0000582Upslanted palpebral fissure
HP:0000648Optic atrophy
HP:0000664Synophrys
HP:0000687Widely spaced teeth
HP:0000689Dental malocclusion
HP:0000924Abnormality of the skeletal system
HP:0001004Lymphedema
HP:0001182Tapered finger
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001272Cerebellar atrophy
HP:0001305Dandy-Walker malformation
HP:0001344Absent speech
HP:0001371Flexion contracture
HP:0001643Patent ductus arteriosus
HP:0001845Overlapping toe
HP:0002465Poor speech
HP:0002553Highly arched eyebrow
HP:0002714Downturned corners of mouth
HP:0002721Immunodeficiency
HP:0003764Nevus
HP:0005160Total anomalous pulmonary venous return
HP:0007033Cerebellar dysplasia
HP:0007655Eversion of lateral third of lower eyelids
HP:0007663Reduced visual acuity
HP:0008947Floppy infant
HP:0009623Proximal placement of thumb
HP:0010804Tented upper lip vermilion
HP:0011220Prominent forehead
HP:0011800Midface retrusion
HP:0012385Camptodactyly
HP:0030084Clinodactyly
HP:0045075Sparse eyebrow
HP:0100763Abnormality of the lymphatic system
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)