Mosaic trisomy 16 syndrome
ORPHA:1708Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)43
Очень частый (80–99%)1
HP:0001511Intrauterine growth retardation
Частый (30–79%)4
HP:0001518Small for gestational age
HP:0001622Premature birth
HP:0001627Abnormal heart morphology
HP:0100602Preeclampsia
Периодический (5–29%)20
HP:0000047Hypospadias
HP:0000085Horseshoe kidney
HP:0000119Abnormality of the genitourinary system
HP:0000750Delayed speech and language development
HP:0000765Abnormal thorax morphology
HP:0001159Syndactyly
HP:0001195Single umbilical artery
HP:0001263Global developmental delay
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0002011Morphological central nervous system abnormality
HP:0002089Pulmonary hypoplasia
HP:0004484Craniofacial asymmetry
HP:0006267Large placenta
HP:0009800Maternal diabetes
HP:0011024Abnormality of the gastrointestinal tract
HP:0011471Gastrostomy tube feeding in infancy
HP:0030084Clinodactyly
HP:0100555Asymmetric growth
Очень редкий (1–4%)18
HP:0000154Wide mouth
HP:0000365Hearing impairment
HP:0000366Abnormality of the nose
HP:0000954Single transverse palmar crease
HP:0001250Seizure
HP:0001545Anteriorly placed anus
HP:0001680Coarctation of aorta
HP:0002088Abnormal lung morphology
HP:0002245Meckel diverticulum
HP:0003319Abnormality of the cervical spine
HP:0005587Profuse pigmented skin lesions
HP:0005773Short forearm
HP:0009778Short thumb
HP:0011470Nasogastric tube feeding in infancy
HP:0011640Single coronary artery origin
HP:0012372Abnormal eye morphology
HP:0031703Abnormal ear morphology
HP:0100864Short femoral neck
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 226 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)