Toriello-Carey syndrome
ORPHA:3338Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)7
HP:0000347Micrognathia
HP:0000377Abnormal pinna morphology
HP:0000506Telecanthus
HP:0001249Intellectual disability
HP:0001273Abnormal corpus callosum morphology
HP:0003196Short nose
HP:0012745Short palpebral fissure
Частый (30–79%)13
HP:0000028Cryptorchidism
HP:0000174Abnormal palate morphology
HP:0000175Cleft palate
HP:0000260Wide anterior fontanel
HP:0000293Full cheeks
HP:0000365Hearing impairment
HP:0000470Short neck
HP:0001252Hypotonia
HP:0001274Agenesis of corpus callosum
HP:0001545Anteriorly placed anus
HP:0001671Abnormal cardiac septum morphology
HP:0002251Aganglionic megacolon
HP:0004322Short stature
Периодический (5–29%)22
HP:0000218High palate
HP:0000252Microcephaly
HP:0000369Low-set ears
HP:0000391Thickened helices
HP:0000774Narrow chest
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001338Partial agenesis of the corpus callosum
HP:0001511Intrauterine growth retardation
HP:0001600Abnormality of the larynx
HP:0001638Cardiomyopathy
HP:0001642Pulmonic stenosis
HP:0001643Patent ductus arteriosus
HP:0002059Cerebral atrophy
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002643Neonatal respiratory distress
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0008872Feeding difficulties in infancy
HP:0008897Postnatal growth retardation
HP:0030084Clinodactyly
HP:0045075Sparse eyebrow
Очень редкий (1–4%)4
HP:0001305Dandy-Walker malformation
HP:0001636Tetralogy of Fallot
HP:0001680Coarctation of aorta
HP:0009892Anotia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 59 | 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)