Amniotic band syndrome
ORPHA:295000Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)28
Частый (30–79%)8
HP:0000238Hydrocephalus
HP:0000316Hypertelorism
HP:0002814Abnormality of the lower limb
HP:0009775Amniotic constriction ring
HP:0010491Digital constriction ring
HP:0010495Amniotic constriction rings of legs
HP:0010721Abnormal hair whorl
HP:0011220Prominent forehead
Периодический (5–29%)20
HP:0002803Congenital contracture
HP:0002817Abnormality of the upper limb
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008872Feeding difficulties in infancy
HP:0010483Amniotic constriction rings of arms
HP:0010741Pedal edema
HP:0010742Edema of the upper limbs
HP:0410030Cleft lip
HP:5201015Craniofacial cleft
HP:0000175Cleft palate
HP:0000589Coloboma
HP:0001263Global developmental delay
HP:0001539Omphalocele
HP:0001543Gastroschisis
HP:0001558Decreased fetal movement
HP:0001622Premature birth
HP:0001683Ectopia cordis
HP:0001762Talipes equinovarus
HP:0002084Encephalocele
HP:0002650Scoliosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5.3 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)