Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
ORPHA:254528Etiological subtypeAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены3
Фенотипы (HPO)38
Очень частый (80–99%)5
HP:0001263Global developmental delay
HP:0001561Polyhydramnios
HP:0005257Thoracic hypoplasia
HP:0006665Coat hanger sign of ribs
HP:0011968Feeding difficulties
Частый (30–79%)8
HP:0000023Inguinal hernia
HP:0001371Flexion contracture
HP:0001382Joint hypermobility
HP:0001537Umbilical hernia
HP:0001540Diastasis recti
HP:0002878Respiratory failure
HP:0006267Large placenta
HP:0008897Postnatal growth retardation
Периодический (5–29%)24
HP:0000126Hydronephrosis
HP:0000158Macroglossia
HP:0000194Open mouth
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000337Broad forehead
HP:0000341Narrow forehead
HP:0000463Anteverted nares
HP:0000565Esotropia
HP:0000767Pectus excavatum
HP:0000884Prominent sternum
HP:0000954Single transverse palmar crease
HP:0001239Wrist flexion contracture
HP:0001252Hypotonia
HP:0001539Omphalocele
HP:0001601Laryngomalacia
HP:0001845Overlapping toe
HP:0002263Exaggerated cupid's bow
HP:0005280Depressed nasal bridge
HP:0005989Redundant neck skin
HP:0010511Long toe
HP:0012385Camptodactyly
HP:0012785Flexion contracture of finger
HP:0045025Narrow palpebral fissure
Очень редкий (1–4%)1
HP:0001511Intrauterine growth retardation
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)