Arthrogryposis multiplex congenita-whistling face syndrome
ORPHA:1150Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)24
Очень частый (80–99%)14
HP:0000358Posteriorly rotated ears
HP:0000160Narrow mouth
HP:0000233Thin vermilion border
HP:0000293Full cheeks
HP:0000346Whistling appearance
HP:0000581Blepharophimosis
HP:0001181Adducted thumb
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001387Joint stiffness
HP:0001561Polyhydramnios
HP:0003043Abnormality of the shoulder
HP:0004322Short stature
HP:0011344Severe global developmental delay
Частый (30–79%)4
HP:0000201Pierre-Robin sequence
HP:0000347Micrognathia
HP:0001511Intrauterine growth retardation
HP:0002353EEG abnormality
Периодический (5–29%)6
HP:0000174Abnormal palate morphology
HP:0000364Hearing abnormality
HP:0000366Abnormality of the nose
HP:0001231Abnormal fingernail morphology
HP:0002714Downturned corners of mouth
HP:0010751Chin dimple
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)