Trisomy 12p syndrome
ORPHA:1699Malformation syndromeNot applicable, UnknownNeonatal
Фенотипы (HPO)31
Очень частый (80–99%)20
HP:0000232Everted lower lip vermilion
HP:0000262Turricephaly
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000474Thickened nuchal skin fold
HP:0000574Thick eyebrow
HP:0001176Large hands
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002714Downturned corners of mouth
HP:0002916Abnormality of chromosome segregation
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0009738Abnormality of the antihelix
HP:0012368Flat face
Частый (30–79%)5
HP:0000369Low-set ears
HP:0000520Proptosis
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)6
HP:0000079Abnormality of the urinary system
HP:0000175Cleft palate
HP:0002023Anal atresia
HP:0002558Supernumerary nipple
HP:0008053Aplasia/Hypoplasia of the iris
HP:0008056Aplasia/Hypoplasia affecting the eye
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | Worldwide | Case(s) |
| Prevalence at birth | 1-9 / 100 000 | 2 | Worldwide | Value and class |
| 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)