Crouzon syndrome
ORPHA:207Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)33
Очень частый (80–99%)5
HP:0000348High forehead
HP:0000929Abnormal skull morphology
HP:0001999Abnormal facial shape
HP:0002007Frontal bossing
HP:0011324Multiple suture craniosynostosis
Частый (30–79%)13
HP:0000248Brachycephaly
HP:0000262Turricephaly
HP:0000316Hypertelorism
HP:0000327Hypoplasia of the maxilla
HP:0000405Conductive hearing impairment
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000509Conjunctivitis
HP:0000520Proptosis
HP:0001321Cerebellar hypoplasia
HP:0002308Chiari malformation
HP:0002516Increased intracranial pressure
HP:0011800Midface retrusion
Периодический (5–29%)15
HP:0000189Narrow palate
HP:0000238Hydrocephalus
HP:0000365Hearing impairment
HP:0000444Convex nasal ridge
HP:0000453Choanal atresia
HP:0000612Iris coloboma
HP:0000646Amblyopia
HP:0000648Optic atrophy
HP:0000956Acanthosis nigricans
HP:0000995Melanocytic nevus
HP:0001053Hypopigmented skin patches
HP:0002093Respiratory insufficiency
HP:0002315Headache
HP:0005107Abnormal sacrum morphology
HP:0011386Narrow internal auditory canal
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.9 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Point prevalence | 1-9 / 100 000 | 1.65 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.6 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)