Distal deletion 3p syndrome
ORPHA:1620Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)34
Очень частый (80–99%)7
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0004322Short stature
HP:0100543Cognitive impairment
Частый (30–79%)13
HP:0000358Posteriorly rotated ears
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000365Hearing impairment
HP:0001162Postaxial hand polydactyly
HP:0001252Hypotonia
HP:0001511Intrauterine growth retardation
HP:0002714Downturned corners of mouth
HP:0006695Atrioventricular canal defect
Периодический (5–29%)14
HP:0000023Inguinal hernia
HP:0000233Thin vermilion border
HP:0000325Triangular face
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000581Blepharophimosis
HP:0000960Sacral dimple
HP:0001250Seizure
HP:0001257Spasticity
HP:0001537Umbilical hernia
HP:0002119Ventriculomegaly
HP:0004209Clinodactyly of the 5th finger
HP:0004467Preauricular pit
HP:0007670Abnormal vestibulo-ocular reflex
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 34 | 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)