Crane-Heise syndrome
ORPHA:1512Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)20
Очень частый (80–99%)11
HP:0000175Cleft palate
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000463Anteverted nares
HP:0000882Hypoplastic scapulae
HP:0001511Intrauterine growth retardation
HP:0001762Talipes equinovarus
HP:0004331Decreased skull ossification
HP:0005280Depressed nasal bridge
HP:0006660Aplastic clavicles
HP:0000358Posteriorly rotated ears
Частый (30–79%)6
HP:0000028Cryptorchidism
HP:0001387Joint stiffness
HP:0001770Toe syndactyly
HP:0006101Finger syndactyly
HP:0009882Short distal phalanx of finger
HP:0100569Abnormally ossified vertebrae
Периодический (5–29%)3
HP:0002119Ventriculomegaly
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008736Hypoplasia of penis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)