PHAVER syndrome
ORPHA:2876Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)8
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000772Abnormal rib morphology
HP:0001059Pterygium
HP:0001511Intrauterine growth retardation
HP:0003312Abnormal form of the vertebral bodies
HP:0003316Butterfly vertebrae
HP:0009465Ulnar deviation of finger
Частый (30–79%)18
HP:0000286Epicanthus
HP:0000396Overfolded helix
HP:0000405Conductive hearing impairment
HP:0000494Downslanted palpebral fissures
HP:0001199Triphalangeal thumb
HP:0001387Joint stiffness
HP:0001629Ventricular septal defect
HP:0001680Coarctation of aorta
HP:0002475Myelomeningocele
HP:0002974Radioulnar synostosis
HP:0004935Pulmonary artery atresia
HP:0005280Depressed nasal bridge
HP:0009778Short thumb
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0010059Broad hallux phalanx
HP:0011304Broad thumb
HP:0012304Hypoplastic aortic arch
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)