Diaphragmatic defect-limb deficiency-skull defect syndrome
ORPHA:2141Malformation syndromeUnknownAntenatal
Фенотипы (HPO)16
Очень частый (80–99%)15
HP:0000776Congenital diaphragmatic hernia
HP:0000782Abnormality of the scapula
HP:0001539Omphalocele
HP:0002089Pulmonary hypoplasia
HP:0002814Abnormality of the lower limb
HP:0002817Abnormality of the upper limb
HP:0002823Abnormality of femur morphology
HP:0004209Clinodactyly of the 5th finger
HP:0004331Decreased skull ossification
HP:0006101Finger syndactyly
HP:0006492Aplasia/Hypoplasia of the fibula
HP:0006495Aplasia/Hypoplasia of the ulna
HP:0006501Aplasia/Hypoplasia of the radius
HP:0006507Aplasia/hypoplasia of the humerus
HP:0100560Upper limb asymmetry
Периодический (5–29%)1
HP:0000008Abnormal morphology of female internal genitalia
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)