Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
ORPHA:1112Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)18
Очень частый (80–99%)4
HP:0001839Split foot
HP:0002937Hemivertebrae
HP:0009767Aplasia/Hypoplasia of the phalanges of the hand
HP:0010173Aplasia/Hypoplasia of the phalanges of the toes
Частый (30–79%)14
HP:0000055Abnormality of female external genitalia
HP:0001555Asymmetry of the thorax
HP:0001562Oligohydramnios
HP:0001643Patent ductus arteriosus
HP:0001770Toe syndactyly
HP:0001798Anonychia
HP:0002089Pulmonary hypoplasia
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0003042Elbow dislocation
HP:0004320Vaginal fistula
HP:0005916Abnormal metacarpal morphology
HP:0006101Finger syndactyly
HP:0008678Renal hypoplasia/aplasia
HP:0012621Persistent cloaca
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)