Microgastria-limb reduction defect syndrome
ORPHA:2538Malformation syndromeNot applicableInfancy, Neonatal
Фенотипы (HPO)48
Очень частый (80–99%)10
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001743Abnormality of the spleen
HP:0002020Gastroesophageal reflux
HP:0002036Hiatus hernia
HP:0002818Abnormal morphology of the radius
HP:0009778Short thumb
HP:0011968Feeding difficulties
HP:0100633Esophagitis
HP:0100841Microgastria
Частый (30–79%)9
HP:0000003Multicystic kidney dysplasia
HP:0000110Renal dysplasia
HP:0001167Abnormality of finger
HP:0001357Plagiocephaly
HP:0002007Frontal bossing
HP:0005916Abnormal metacarpal morphology
HP:0005988Congenital muscular torticollis
HP:0011220Prominent forehead
HP:0031095Abnormal humerus morphology
Периодический (5–29%)29
HP:0000085Horseshoe kidney
HP:0000104Renal agenesis
HP:0000143Rectovaginal fistula
HP:0000528Anophthalmia
HP:0000568Microphthalmia
HP:0001274Agenesis of corpus callosum
HP:0001331Absent septum pellucidum
HP:0001631Atrial septal defect
HP:0001660Truncus arteriosus
HP:0002023Anal atresia
HP:0002032Esophageal atresia
HP:0002101Abnormal lung lobation
HP:0002139Arrhinencephaly
HP:0002240Hepatomegaly
HP:0002536Abnormal cortical gyration
HP:0002566Intestinal malrotation
HP:0002575Tracheoesophageal fistula
HP:0003042Elbow dislocation
HP:0004050Absent hand
HP:0004736Crossed fused renal ectopia
HP:0004871Perineal fistula
HP:0006660Aplastic clavicles
HP:0008678Renal hypoplasia/aplasia
HP:0009827Amelia
HP:0009829Phocomelia
HP:0012165Oligodactyly
HP:0025023Rectal atresia
HP:0030680Abnormal cardiovascular system morphology
HP:0100257Ectrodactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 16 | 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)