Limb body wall complex
ORPHA:2369Malformation syndromeNot applicableAntenatal, Infancy, Neonatal
Фенотипы (HPO)49
Очень частый (80–99%)3
HP:0010866Abdominal wall defect
HP:0011418Abnormal insertion of umbilical cord
HP:0040064Abnormality of limbs
Частый (30–79%)12
HP:0000077Abnormality of the kidney
HP:0000765Abnormal thorax morphology
HP:0000776Congenital diaphragmatic hernia
HP:0000925Abnormality of the vertebral column
HP:0001196Short umbilical cord
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001683Ectopia cordis
HP:0002011Morphological central nervous system abnormality
HP:0005257Thoracic hypoplasia
HP:0006711Aplasia/Hypoplasia involving bones of the thorax
Периодический (5–29%)34
HP:0000175Cleft palate
HP:0000238Hydrocephalus
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0000453Choanal atresia
HP:0000612Iris coloboma
HP:0001132Lens subluxation
HP:0001195Single umbilical artery
HP:0001392Abnormality of the liver
HP:0001540Diastasis recti
HP:0001776Bilateral talipes equinovarus
HP:0001839Split foot
HP:0002084Encephalocele
HP:0002143Abnormality of the spinal cord
HP:0002242Abnormal intestine morphology
HP:0002323Anencephaly
HP:0002414Spina bifida
HP:0002475Myelomeningocele
HP:0002933Ventral hernia
HP:0003298Spina bifida occulta
HP:0004275Duplication of hand bones
HP:0005280Depressed nasal bridge
HP:0006368Forearm reduction defects
HP:0006496Aplasia/hypoplasia involving bones of the upper limbs
HP:0007385Aplasia cutis congenita of scalp
HP:0007957Corneal opacity
HP:0008458Progressive congenital scoliosis
HP:0009775Amniotic constriction ring
HP:0010055Broad hallux
HP:0010242Aplasia of the proximal phalanges of the hand
HP:0010541Cutis gyrata of scalp
HP:0010554Cutaneous finger syndactyly
HP:0100656Thoracoabdominal wall defect
HP:0410030Cleft lip
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3 | Australia | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | Japan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.4 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)