16p12.1p12.3 triplication syndrome
ORPHA:485405Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)44
Частый (30–79%)15
HP:0000233Thin vermilion border
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000414Bulbous nose
HP:0001182Tapered finger
HP:0001508Failure to thrive
HP:0001627Abnormal heart morphology
HP:0002194Delayed gross motor development
HP:0002705High, narrow palate
HP:0007687Unilateral ptosis
HP:0009748Large earlobe
HP:0010862Delayed fine motor development
HP:0012745Short palpebral fissure
Периодический (5–29%)29
HP:0000154Wide mouth
HP:0000278Retrognathia
HP:0000280Coarse facial features
HP:0000293Full cheeks
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000574Thick eyebrow
HP:0000739Anxiety
HP:0000752Hyperactivity
HP:0000824Decreased response to growth hormone stimulation test
HP:0001156Brachydactyly
HP:0001212Prominent fingertip pads
HP:0001511Intrauterine growth retardation
HP:0001631Atrial septal defect
HP:0001649Tachycardia
HP:0001702Abnormal tricuspid valve morphology
HP:0001822Hallux valgus
HP:0003196Short nose
HP:00046912-3 toe syndactyly
HP:0007018Attention deficit hyperactivity disorder
HP:0008689Bilateral cryptorchidism
HP:0008947Floppy infant
HP:0009237Short 5th finger
HP:0011040Abnormality of the intrahepatic bile duct
HP:0012166Skin-picking
HP:0012170Nail-biting
HP:0012450Chronic constipation
HP:0040025Clinodactyly of the 4th finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)