Cerebrofacioarticular syndrome
ORPHA:314679Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)44
Очень частый (80–99%)6
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0008551Microtia
HP:0008872Feeding difficulties in infancy
HP:0008947Floppy infant
HP:0012385Camptodactyly
Частый (30–79%)9
HP:0000089Renal hypoplasia
HP:0000239Large fontanelles
HP:0000347Micrognathia
HP:0000405Conductive hearing impairment
HP:0000938Osteopenia
HP:0001159Syndactyly
HP:0002342Intellectual disability, moderate
HP:0002778Abnormal trachea morphology
HP:0011471Gastrostomy tube feeding in infancy
Периодический (5–29%)29
HP:0000047Hypospadias
HP:0000160Narrow mouth
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000327Hypoplasia of the maxilla
HP:0000431Wide nasal bridge
HP:0000581Blepharophimosis
HP:0001004Lymphedema
HP:0001251Ataxia
HP:0001274Agenesis of corpus callosum
HP:0001320Cerebellar vermis hypoplasia
HP:0001545Anteriorly placed anus
HP:0001627Abnormal heart morphology
HP:0001642Pulmonic stenosis
HP:0001762Talipes equinovarus
HP:0002025Anal stenosis
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002282Gray matter heterotopia
HP:0002779Tracheomalacia
HP:0002825Caudal appendage
HP:0004322Short stature
HP:0006989Dysplastic corpus callosum
HP:0008197Absence of pubertal development
HP:0010864Intellectual disability, severe
HP:0040079Irregular dentition
HP:0100716Self-injurious behavior
HP:0200138Bilateral choanal atresia/stenosis
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)