Dislocation of the hip-dysmorphism syndrome
ORPHA:2412Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)20
Частый (30–79%)15
HP:0001382Joint hypermobility
HP:0000160Narrow mouth
HP:0000174Abnormal palate morphology
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000364Hearing abnormality
HP:0000431Wide nasal bridge
HP:0000457Depressed nasal ridge
HP:0000463Anteverted nares
HP:0001374Congenital hip dislocation
HP:0001671Abnormal cardiac septum morphology
HP:0001702Abnormal tricuspid valve morphology
HP:0004097Deviation of finger
HP:0010759Premaxillary Prominence
Периодический (5–29%)5
HP:0000023Inguinal hernia
HP:0000079Abnormality of the urinary system
HP:0001643Patent ductus arteriosus
HP:0002815Abnormality of the knee
HP:0011328Abnormality of fontanelles
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)