Mosaic trisomy 1 syndrome
ORPHA:1692Malformation syndromeNeonatal
Фенотипы (HPO)60
Периодический (5–29%)60
HP:0010880Increased nuchal translucency
HP:0000776Congenital diaphragmatic hernia
HP:0001539Omphalocele
HP:0000107Renal cyst
HP:0000568Microphthalmia
HP:0006956Dilation of lateral ventricles
HP:0001274Agenesis of corpus callosum
HP:0001320Cerebellar vermis hypoplasia
HP:0100490Camptodactyly of finger
HP:00012332-3 finger syndactyly
HP:0012553Hypoplastic thumbnail
HP:0002089Pulmonary hypoplasia
HP:0000280Coarse facial features
HP:0005280Depressed nasal bridge
HP:0000431Wide nasal bridge
HP:0000369Low-set ears
HP:0000154Wide mouth
HP:0000308Microretrognathia
HP:0001561Polyhydramnios
HP:0007759Opacification of the corneal stroma
HP:0000202Orofacial cleft
HP:0000803Renal cortical cysts
HP:0007291Posterior fossa cyst
HP:0002280Enlarged cisterna magna
HP:0000175Cleft palate
HP:0001188Hand clenching
HP:0001838Rocker bottom foot
HP:0000377Abnormal pinna morphology
HP:0000256Macrocephaly
HP:0002007Frontal bossing
HP:0000054Micropenis
HP:0001166Arachnodactyly
HP:0001792Small nail
HP:0009943Complete duplication of thumb phalanx
HP:0001770Toe syndactyly
HP:0100040Broad 2nd toe
HP:0010344Deviation of the 5th toe
HP:0001837Broad toe
HP:0002126Polymicrogyria
HP:0001321Cerebellar hypoplasia
HP:0002987Elbow flexion contracture
HP:0003244Penile hypospadias
HP:0000954Single transverse palmar crease
HP:0010511Long toe
HP:0000324Facial asymmetry
HP:0007911Congenital bilateral ptosis
HP:0000179Thick lower lip vermilion
HP:0000188Short upper lip
HP:0001032Absent distal interphalangeal creases
HP:0002943Thoracic scoliosis
HP:0045086Knee joint hypermobility
HP:0004935Pulmonary artery atresia
HP:0001629Ventricular septal defect
HP:0002342Intellectual disability, moderate
HP:0001195Single umbilical artery
HP:0000237Small anterior fontanelle
HP:0000494Downslanted palpebral fissures
HP:0001680Coarctation of aorta
HP:0040019Finger clinodactyly
HP:0100839Hepatic agenesis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | 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)