X-linked mandibulofacial dysostosis
ORPHA:1131Malformation syndromeX-linked recessiveNeonatal
Фенотипы (HPO)24
Очень частый (80–99%)14
HP:0000358Posteriorly rotated ears
HP:0000218High palate
HP:0000252Microcephaly
HP:0000325Triangular face
HP:0000347Micrognathia
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000411Protruding ear
HP:0000426Prominent nasal bridge
HP:0000465Webbed neck
HP:0000494Downslanted palpebral fissures
HP:0004322Short stature
HP:0009794Branchial anomaly
HP:0010669Hypoplasia of the zygomatic bone
Частый (30–79%)3
HP:0000028Cryptorchidism
HP:0000286Epicanthus
HP:0100840Aplasia/Hypoplasia of the eyebrow
Периодический (5–29%)7
HP:0000324Facial asymmetry
HP:0000508Ptosis
HP:0000767Pectus excavatum
HP:0001633Abnormal mitral valve morphology
HP:0001642Pulmonic stenosis
HP:0004414Abnormality of the pulmonary artery
HP:0100555Asymmetric growth
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)