Saethre-Chotzen syndrome
ORPHA:794Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FGFR3 | fibroblast growth factor receptor 3 | Candidate gene tested in | gene with protein product | 134934 |
| FGFR2 | fibroblast growth factor receptor 2 | Candidate gene tested in | gene with protein product | 176943 |
| TWIST1 | twist family bHLH transcription factor 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601622 |
Фенотипы (HPO)61
Очень частый (80–99%)7
HP:0000324Facial asymmetry
HP:0000348High forehead
HP:0000929Abnormal skull morphology
HP:0001363Craniosynostosis
HP:0004209Clinodactyly of the 5th finger
HP:0004440Coronal craniosynostosis
HP:0006101Finger syndactyly
Частый (30–79%)22
HP:0000377Abnormal pinna morphology
HP:0000189Narrow palate
HP:0000248Brachycephaly
HP:0000270Delayed cranial suture closure
HP:0000294Low anterior hairline
HP:0000316Hypertelorism
HP:0000426Prominent nasal bridge
HP:0000444Convex nasal ridge
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000643Blepharospasm
HP:0001156Brachydactyly
HP:0001357Plagiocephaly
HP:0003307Hyperlordosis
HP:0005280Depressed nasal bridge
HP:0007598Bilateral single transverse palmar creases
HP:0007678Lacrimal duct stenosis
HP:0008551Microtia
HP:0009738Abnormality of the antihelix
HP:0009899Prominent crus of helix
HP:0010807Open bite
HP:0011386Narrow internal auditory canal
Периодический (5–29%)32
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000286Epicanthus
HP:0000327Hypoplasia of the maxilla
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000601Hypotelorism
HP:0000646Amblyopia
HP:0000648Optic atrophy
HP:0001199Triphalangeal thumb
HP:0001250Seizure
HP:0001627Abnormal heart morphology
HP:0001822Hallux valgus
HP:0001837Broad toe
HP:0002076Migraine
HP:0002315Headache
HP:0002342Intellectual disability, moderate
HP:0002516Increased intracranial pressure
HP:0002650Scoliosis
HP:0002697Parietal foramina
HP:0002974Radioulnar synostosis
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0005037Proximal radio-ulnar synostosis
HP:0010084Duplication of the distal phalanx of the hallux
HP:0010535Sleep apnea
HP:0010720Abnormal hair pattern
HP:0011304Broad thumb
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)