8q21.11 microdeletion syndrome
ORPHA:284160Malformation syndromeAutosomal dominant, Not applicableInfancy, Neonatal
Фенотипы (HPO)39
Очень частый (80–99%)11
HP:0000293Full cheeks
HP:0000311Round face
HP:0000322Short philtrum
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000508Ptosis
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001999Abnormal facial shape
HP:0002263Exaggerated cupid's bow
HP:0002714Downturned corners of mouth
Частый (30–79%)12
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000430Underdeveloped nasal alae
HP:0000445Wide nose
HP:0000470Short neck
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000581Blepharophimosis
HP:0000647Sclerocornea
HP:0001611Hypernasal speech
HP:0007957Corneal opacity
HP:0010489Absent palmar crease
Периодический (5–29%)16
HP:0000028Cryptorchidism
HP:0000160Narrow mouth
HP:0000164Abnormality of the dentition
HP:0000218High palate
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000964Eczematoid dermatitis
HP:0004408Abnormality of the sense of smell
HP:0005916Abnormal metacarpal morphology
HP:0006101Finger syndactyly
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0007730Iris hypopigmentation
HP:0008736Hypoplasia of penis
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | 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)