Postaxial polydactyly-dental and vertebral anomalies syndrome
ORPHA:2916Malformation syndromeNeonatal
Фенотипы (HPO)29
Очень частый (80–99%)9
HP:0000474Thickened nuchal skin fold
HP:0001156Brachydactyly
HP:0001162Postaxial hand polydactyly
HP:0001572Macrodontia
HP:0002937Hemivertebrae
HP:0002948Vertebral fusion
HP:0003312Abnormal form of the vertebral bodies
HP:0008479Hypoplastic vertebral bodies
HP:0009738Abnormality of the antihelix
Частый (30–79%)11
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000668Hypodontia
HP:0000682Abnormality of dental enamel
HP:0001347Hyperreflexia
HP:0002162Low posterior hairline
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0009906Aplasia/Hypoplasia of the earlobes
Периодический (5–29%)9
HP:0000175Cleft palate
HP:0000632Lacrimation abnormality
HP:0001357Plagiocephaly
HP:0002999Patellar dislocation
HP:0003042Elbow dislocation
HP:0005988Congenital muscular torticollis
HP:0010935Abnormality of the upper urinary tract
HP:0030680Abnormal cardiovascular system morphology
HP:0100672Vaginal hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)