Carey-Fineman-Ziter syndrome
ORPHA:1358Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены2
Фенотипы (HPO)36
Очень частый (80–99%)15
HP:0000201Pierre-Robin sequence
HP:0000233Thin vermilion border
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000634Impaired ocular abduction
HP:0001156Brachydactyly
HP:0001252Hypotonia
HP:0003196Short nose
HP:0003202Skeletal muscle atrophy
HP:0010295Aplasia/Hypoplasia of the tongue
HP:0010628Facial palsy
Частый (30–79%)10
HP:0000162Glossoptosis
HP:0000175Cleft palate
HP:0000218High palate
HP:0000252Microcephaly
HP:0001249Intellectual disability
HP:0001510Growth delay
HP:0001762Talipes equinovarus
HP:0002650Scoliosis
HP:0004322Short stature
HP:0006824Cranial nerve paralysis
Периодический (5–29%)11
HP:0000126Hydronephrosis
HP:0000807Glandular hypospadias
HP:0001600Abnormality of the larynx
HP:0001602Laryngeal stenosis
HP:0002119Ventriculomegaly
HP:0002514Cerebral calcification
HP:0003198Myopathy
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0009465Ulnar deviation of finger
HP:0009751Aplasia of the pectoralis major muscle
HP:0100735Hypertensive crisis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)