Nager syndrome
ORPHA:245Malformation syndromeAutosomal dominant, Autosomal recessive, Not applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)8
HP:0000327Hypoplasia of the maxilla
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000494Downslanted palpebral fissures
HP:0000750Delayed speech and language development
HP:0002652Skeletal dysplasia
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0010669Hypoplasia of the zygomatic bone
Частый (30–79%)14
HP:0000154Wide mouth
HP:0000174Abnormal palate morphology
HP:0000175Cleft palate
HP:0000413Atresia of the external auditory canal
HP:0000508Ptosis
HP:0000652Lower eyelid coloboma
HP:0001387Joint stiffness
HP:0002093Respiratory insufficiency
HP:0002984Hypoplasia of the radius
HP:0005105Abnormal nasal morphology
HP:0006501Aplasia/Hypoplasia of the radius
HP:0007776Sparse lower eyelashes
HP:0008551Microtia
HP:0100840Aplasia/Hypoplasia of the eyebrow
Периодический (5–29%)7
HP:0000122Unilateral renal agenesis
HP:0001199Triphalangeal thumb
HP:0002814Abnormality of the lower limb
HP:0009829Phocomelia
HP:0030680Abnormal cardiovascular system morphology
HP:0100335Non-midline cleft of the upper lip
HP:0000358Posteriorly rotated ears
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)