Verloove Vanhorick-Brubakk syndrome
ORPHA:3429Malformation syndromeNeonatal
Фенотипы (HPO)18
Очень частый (80–99%)16
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000413Atresia of the external auditory canal
HP:0000828Abnormality of the parathyroid gland
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002823Abnormality of femur morphology
HP:0003312Abnormal form of the vertebral bodies
HP:0005916Abnormal metacarpal morphology
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0008368Tarsal synostosis
HP:0008551Microtia
HP:0009826Limb undergrowth
HP:0030680Abnormal cardiovascular system morphology
HP:0100335Non-midline cleft of the upper lip
Частый (30–79%)2
HP:0006101Finger syndactyly
HP:0100542Abnormal localization of kidney
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)