Baller-Gerold syndrome
ORPHA:1225Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)11
HP:0009380Finger aplasia
HP:0000239Large fontanelles
HP:0000244Brachyturricephaly
HP:0000248Brachycephaly
HP:0000520Proptosis
HP:0001510Growth delay
HP:0001531Failure to thrive in infancy
HP:0002007Frontal bossing
HP:0004322Short stature
HP:0006501Aplasia/Hypoplasia of the radius
HP:0009601Aplasia/Hypoplasia of the thumb
Частый (30–79%)10
HP:0000160Narrow mouth
HP:0000218High palate
HP:0001191Abnormal carpal morphology
HP:0001511Intrauterine growth retardation
HP:0001545Anteriorly placed anus
HP:0002024Malabsorption
HP:0003196Short nose
HP:0005916Abnormal metacarpal morphology
HP:0006487Bowing of the long bones
HP:0006498Aplasia/Hypoplasia of the patella
Периодический (5–29%)22
HP:0000069Abnormality of the ureter
HP:0000076Vesicoureteral reflux
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000275Narrow face
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000347Micrognathia
HP:0000405Conductive hearing impairment
HP:0000426Prominent nasal bridge
HP:0000446Narrow nasal bridge
HP:0000601Hypotelorism
HP:0000639Nystagmus
HP:0001029Poikiloderma
HP:0001671Abnormal cardiac septum morphology
HP:0002023Anal atresia
HP:0002650Scoliosis
HP:0002665Lymphoma
HP:0002669Osteosarcoma
HP:0100542Abnormal localization of kidney
HP:0100589Urogenital fistula
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)