Bowen-Conradi syndrome
ORPHA:1270Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)20
Очень частый (80–99%)10
HP:0000252Microcephaly
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000448Prominent nose
HP:0001387Joint stiffness
HP:0001522Death in infancy
HP:0004322Short stature
HP:0008850Severe postnatal growth retardation
HP:0008872Feeding difficulties in infancy
HP:0011344Severe global developmental delay
Частый (30–79%)5
HP:0000028Cryptorchidism
HP:0001838Rocker bottom foot
HP:0004209Clinodactyly of the 5th finger
HP:0008846Severe intrauterine growth retardation
HP:0100490Camptodactyly of finger
Периодический (5–29%)5
HP:0000202Orofacial cleft
HP:0001250Seizure
HP:0002101Abnormal lung lobation
HP:0002119Ventriculomegaly
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | >1 / 1000 | 281 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)