Von Voss-Cherstvoy syndrome
ORPHA:3439Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Фенотипы (HPO)23
Очень частый (80–99%)4
HP:0001873Thrombocytopenia
HP:0002085Occipital encephalocele
HP:0006496Aplasia/hypoplasia involving bones of the upper limbs
HP:0009813Upper limb phocomelia
Частый (30–79%)5
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0006501Aplasia/Hypoplasia of the radius
HP:0007370Aplasia/Hypoplasia of the corpus callosum
Периодический (5–29%)14
HP:0000028Cryptorchidism
HP:0000034Hydrocele testis
HP:0000044Hypogonadotropic hypogonadism
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000062Ambiguous genitalia
HP:0000079Abnormality of the urinary system
HP:0000453Choanal atresia
HP:0000692Tooth malposition
HP:0001250Seizure
HP:0001627Abnormal heart morphology
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0100702Arachnoid cyst
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)