Crouzon syndrome-acanthosis nigricans syndrome
ORPHA:93262Malformation syndromeAutosomal dominant, Not applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)3
HP:0000348High forehead
HP:0000956Acanthosis nigricans
HP:0002007Frontal bossing
Частый (30–79%)18
HP:0000238Hydrocephalus
HP:0000248Brachycephaly
HP:0000262Turricephaly
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000327Hypoplasia of the maxilla
HP:0000405Conductive hearing impairment
HP:0000453Choanal atresia
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000520Proptosis
HP:0001156Brachydactyly
HP:0002308Chiari malformation
HP:0002516Increased intracranial pressure
HP:0003312Abnormal form of the vertebral bodies
HP:0005916Abnormal metacarpal morphology
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0100533Inflammatory abnormality of the eye
Периодический (5–29%)7
HP:0000174Abnormal palate morphology
HP:0000444Convex nasal ridge
HP:0000505Visual impairment
HP:0000648Optic atrophy
HP:0002076Migraine
HP:0002093Respiratory insufficiency
HP:0005107Abnormal sacrum morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)