Urban-Rogers-Meyer syndrome
ORPHA:3409Malformation syndromeInfancy
Фенотипы (HPO)28
Очень частый (80–99%)9
HP:0000135Hypogonadism
HP:0000939Osteoporosis
HP:0001249Intellectual disability
HP:0002757Recurrent fractures
HP:0003212Increased circulating IgE level
HP:0005830Flexion contracture of toe
HP:0001513Obesity
HP:0008736Hypoplasia of penis
HP:0100490Camptodactyly of finger
Частый (30–79%)15
HP:0000028Cryptorchidism
HP:0000286Epicanthus
HP:0000426Prominent nasal bridge
HP:0000470Short neck
HP:0000486Strabismus
HP:0000940Abnormal diaphysis morphology
HP:0001156Brachydactyly
HP:0001773Short foot
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0000396Overfolded helix
HP:0000582Upslanted palpebral fissure
HP:0001770Toe syndactyly
HP:0002808Kyphosis
HP:0005930Abnormality of epiphysis morphology
Периодический (5–29%)4
HP:0000288Abnormality of the philtrum
HP:0000347Micrognathia
HP:0000069Abnormality of the ureter
HP:0009906Aplasia/Hypoplasia of the earlobes
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)