Craniosynostosis-anal anomalies-porokeratosis syndrome
ORPHA:85199Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)24
HP:0000047Hypospadias
HP:0000174Abnormal palate morphology
HP:0000248Brachycephaly
HP:0000260Wide anterior fontanel
HP:0000270Delayed cranial suture closure
HP:0000561Absent eyelashes
HP:0000682Abnormality of dental enamel
HP:0000889Abnormality of the clavicle
HP:0000964Eczematoid dermatitis
HP:0002007Frontal bossing
HP:0002023Anal atresia
HP:0002223Absent eyebrow
HP:0002697Parietal foramina
HP:0002750Delayed skeletal maturation
HP:0004397Ectopic anus
HP:0004440Coronal craniosynostosis
HP:0004491Large posterior fontanelle
HP:0006482Abnormal dental morphology
HP:0006660Aplastic clavicles
HP:0008368Tarsal synostosis
HP:0010306Short thorax
HP:0012742Thin fingernail
HP:0100589Urogenital fistula
HP:0200044Porokeratosis
Частый (30–79%)8
HP:0000154Wide mouth
HP:0000272Malar flattening
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000520Proptosis
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0012471Thick vermilion border
Периодический (5–29%)3
HP:0000175Cleft palate
HP:0001357Plagiocephaly
HP:0002808Kyphosis
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)