Frank-Ter Haar syndrome
ORPHA:137834DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)14
HP:0000154Wide mouth
HP:0000280Coarse facial features
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000431Wide nasal bridge
HP:0000490Deeply set eye
HP:0001061Acne
HP:0001072Thickened skin
HP:0001156Brachydactyly
HP:0001634Mitral valve prolapse
HP:0002797Osteolysis
HP:0005280Depressed nasal bridge
HP:0010885Avascular necrosis
HP:0012471Thick vermilion border
Частый (30–79%)16
HP:0000212Gingival overgrowth
HP:0000303Mandibular prognathia
HP:0000337Broad forehead
HP:0000348High forehead
HP:0000411Protruding ear
HP:0000494Downslanted palpebral fissures
HP:0000684Delayed eruption of teeth
HP:0001387Joint stiffness
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002816Genu recurvatum
HP:0004209Clinodactyly of the 5th finger
HP:0004568Beaking of vertebral bodies
HP:0005916Abnormal metacarpal morphology
HP:0006480Premature loss of teeth
HP:0100490Camptodactyly of finger
Периодический (5–29%)3
HP:0000023Inguinal hernia
HP:0000771Gynecomastia
HP:0001537Umbilical hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)