Triploidy syndrome
ORPHA:3376Malformation syndromeNot applicable, UnknownAntenatal, Neonatal
Фенотипы (HPO)34
Очень частый (80–99%)10
HP:0000358Posteriorly rotated ears
HP:0001511Intrauterine growth retardation
HP:0002916Abnormality of chromosome segregation
HP:0004331Decreased skull ossification
HP:0008736Hypoplasia of penis
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000154Wide mouth
HP:0000235Abnormality of the fontanelles or cranial sutures
HP:0000316Hypertelorism
Частый (30–79%)12
HP:0000158Macroglossia
HP:0000175Cleft palate
HP:0000347Micrognathia
HP:0000518Cataract
HP:0000612Iris coloboma
HP:0000774Narrow chest
HP:0001539Omphalocele
HP:0001561Polyhydramnios
HP:0002240Hepatomegaly
HP:0006101Finger syndactyly
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0100335Non-midline cleft of the upper lip
Периодический (5–29%)12
HP:0000062Ambiguous genitalia
HP:0000160Narrow mouth
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000470Short neck
HP:0001360Holoprosencephaly
HP:0001671Abnormal cardiac septum morphology
HP:0001732Abnormality of the pancreas
HP:0002435Meningocele
HP:0002566Intestinal malrotation
HP:0005264Abnormality of the gallbladder
HP:0007370Aplasia/Hypoplasia of the corpus callosum
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 12.6 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)