Non-syndromic bicoronal craniosynostosis
ORPHA:35099Morphological anomalyAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FGFR3 | fibroblast growth factor receptor 3 | Disease-causing germline mutation(s) in | gene with protein product | 134934 |
| ZIC1 | Zic family zinc finger 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600470 |
| TCF12 | transcription factor 12 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600480 |
| TWIST1 | twist family bHLH transcription factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 601622 |
Фенотипы (HPO)11
Очень частый (80–99%)2
HP:0000248Brachycephaly
HP:0000337Broad forehead
Частый (30–79%)4
HP:0000365Hearing impairment
HP:0000520Proptosis
HP:0002516Increased intracranial pressure
HP:0009891Underdeveloped supraorbital ridges
Периодический (5–29%)5
HP:0000316Hypertelorism
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0009701Metacarpal synostosis
HP:0011800Midface retrusion
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)