Czeizel-Losonci syndrome
ORPHA:2437Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Фенотипы (HPO)34
Частый (30–79%)7
HP:0000079Abnormality of the urinary system
HP:0000126Hydronephrosis
HP:0001839Split foot
HP:0002414Spina bifida
HP:0012300Ureteral agenesis
HP:0025193Posterolateral diaphragmatic hernia
HP:0100257Ectrodactyly
Периодический (5–29%)27
HP:0000358Posteriorly rotated ears
HP:0000218High palate
HP:0000238Hydrocephalus
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000474Thickened nuchal skin fold
HP:0000582Upslanted palpebral fissure
HP:0000954Single transverse palmar crease
HP:00012332-3 finger syndactyly
HP:0001234Hitchhiker thumb
HP:0001651Dextrocardia
HP:0002089Pulmonary hypoplasia
HP:0002475Myelomeningocele
HP:0002557Hypoplastic nipples
HP:0002575Tracheoesophageal fistula
HP:0002944Thoracolumbar scoliosis
HP:0003298Spina bifida occulta
HP:00060973-4 finger syndactyly
HP:0006610Wide intermamillary distance
HP:0008589Hypoplastic helices
HP:0008593Prominent antitragus
HP:0008676Congenital megaureter
HP:0009112Absent left hemidiaphragm
HP:0010539Thin calvarium
HP:00107041-2 finger syndactyly
HP:0045026Abnormality of the mediastinum
HP:0100760Clubbing of toes
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)