Ogden syndrome
ORPHA:276432Malformation syndromeX-linked dominant, X-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)41
Частый (30–79%)11
HP:0000270Delayed cranial suture closure
HP:0000473Torticollis
HP:0001262Excessive daytime somnolence
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0002059Cerebral atrophy
HP:0002213Fine hair
HP:0002650Scoliosis
HP:0008897Postnatal growth retardation
HP:0010055Broad hallux
HP:0100840Aplasia/Hypoplasia of the eyebrow
Периодический (5–29%)30
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000280Coarse facial features
HP:0000290Abnormality of the forehead
HP:0000308Microretrognathia
HP:0000341Narrow forehead
HP:0000369Low-set ears
HP:0000400Macrotia
HP:0000430Underdeveloped nasal alae
HP:0000494Downslanted palpebral fissures
HP:0000520Proptosis
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000973Cutis laxa
HP:0001254Lethargy
HP:0001276Hypertonia
HP:0001629Ventricular septal defect
HP:0002000Short columella
HP:0002007Frontal bossing
HP:0002119Ventriculomegaly
HP:0002194Delayed gross motor development
HP:0002362Shuffling gait
HP:0002457Abnormal head movements
HP:0002705High, narrow palate
HP:0004415Pulmonary artery stenosis
HP:0009931Enlarged naris
HP:0010803Everted upper lip vermilion
HP:0011675Arrhythmia
HP:0025104Capillary malformation
HP:0030149Cardiogenic shock
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)