Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
ORPHA:2180Malformation syndromeUnknownNeonatal
Фенотипы (HPO)29
Очень частый (80–99%)3
HP:0000238Hydrocephalus
HP:0000303Mandibular prognathia
HP:0000912Sprengel anomaly
Частый (30–79%)23
HP:0000218High palate
HP:0000256Macrocephaly
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000369Low-set ears
HP:0000414Bulbous nose
HP:0000431Wide nasal bridge
HP:0000448Prominent nose
HP:0000463Anteverted nares
HP:0000682Abnormality of dental enamel
HP:0000708Atypical behavior
HP:0000772Abnormal rib morphology
HP:0000992Cutaneous photosensitivity
HP:0001000Abnormality of skin pigmentation
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001513Obesity
HP:0001852Sandal gap
HP:0002650Scoliosis
HP:0002937Hemivertebrae
HP:0003312Abnormal form of the vertebral bodies
HP:0005280Depressed nasal bridge
Периодический (5–29%)3
HP:0000486Strabismus
HP:0000545Myopia
HP:0006610Wide intermamillary distance
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)