Thakker-Donnai syndrome
ORPHA:1780Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)13
HP:0000160Narrow mouth
HP:0000316Hypertelorism
HP:0000358Posteriorly rotated ears
HP:0000414Bulbous nose
HP:0000463Anteverted nares
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000582Upslanted palpebral fissure
HP:0000637Long palpebral fissure
HP:0001252Hypotonia
HP:0002714Downturned corners of mouth
HP:0002937Hemivertebrae
HP:0004602Cervical C2/C3 vertebral fusion
Частый (30–79%)12
HP:0000126Hydronephrosis
HP:0000143Rectovaginal fistula
HP:0000400Macrotia
HP:0000776Congenital diaphragmatic hernia
HP:0001274Agenesis of corpus callosum
HP:0001334Communicating hydrocephalus
HP:0001511Intrauterine growth retardation
HP:0001629Ventricular septal defect
HP:0001636Tetralogy of Fallot
HP:0001669Transposition of the great arteries
HP:0002023Anal atresia
HP:0002575Tracheoesophageal fistula
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)