Camptodactyly-joint contractures-facial skeletal defects syndrome
ORPHA:1323Malformation syndromeAutosomal dominant, Autosomal recessiveNeonatal
Фенотипы (HPO)22
Очень частый (80–99%)21
HP:0000160Narrow mouth
HP:0000189Narrow palate
HP:0000324Facial asymmetry
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000520Proptosis
HP:0001387Joint stiffness
HP:0002162Low posterior hairline
HP:0002650Scoliosis
HP:0002683Abnormality of the calvaria
HP:0003272Abnormality of the hip bone
HP:0003307Hyperlordosis
HP:0003422Vertebral segmentation defect
HP:0004322Short stature
HP:0004422Biparietal narrowing
HP:0005048Synostosis of carpal bones
HP:0006101Finger syndactyly
HP:0100490Camptodactyly of finger
HP:0100555Asymmetric growth
Частый (30–79%)1
HP:0001511Intrauterine growth retardation
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)