Syndactyly-telecanthus-anogenital and renal malformations syndrome
ORPHA:140952Malformation syndromeX-linked dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)5
HP:0000394Lop ear
HP:0001770Toe syndactyly
HP:0002023Anal atresia
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
Частый (30–79%)13
HP:0000066Labial hypoplasia
HP:0000076Vesicoureteral reflux
HP:0000083Renal insufficiency
HP:0000085Horseshoe kidney
HP:0000086Ectopic kidney
HP:0000104Renal agenesis
HP:0000219Thin upper lip vermilion
HP:0000414Bulbous nose
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0000813Bicornuate uterus
HP:0001671Abnormal cardiac septum morphology
HP:0008665Clitoral hypertrophy
Периодический (5–29%)10
HP:0000545Myopia
HP:0000556Retinal dystrophy
HP:0000625Eyelid coloboma
HP:0001250Seizure
HP:0001659Aortic regurgitation
HP:0002984Hypoplasia of the radius
HP:0003396Syringomyelia
HP:0004415Pulmonary artery stenosis
HP:0007754Macular dystrophy
HP:0011560Mitral atresia
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)