Otopalatodigital syndrome type 1
ORPHA:90650Malformation syndromeX-linked dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)14
HP:0000175Cleft palate
HP:0000316Hypertelorism
HP:0000336Prominent supraorbital ridges
HP:0000365Hearing impairment
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000674Anodontia
HP:0000677Oligodontia
HP:0001256Intellectual disability, mild
HP:0001376Limitation of joint mobility
HP:0001852Sandal gap
HP:0002652Skeletal dysplasia
HP:0005280Depressed nasal bridge
HP:0010109Short hallux
Частый (30–79%)10
HP:0002684Thickened calvaria
HP:0002738Hypoplastic frontal sinuses
HP:0003042Elbow dislocation
HP:0004279Short palm
HP:0005916Abnormal metacarpal morphology
HP:0006487Bowing of the long bones
HP:0009623Proximal placement of thumb
HP:0009778Short thumb
HP:0009882Short distal phalanx of finger
HP:0011001Increased bone mineral density
Периодический (5–29%)3
HP:0001850Abnormality of the tarsal bones
HP:0005048Synostosis of carpal bones
HP:0005640Abnormal vertebral segmentation and fusion
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)