Isolated Klippel-Feil syndrome
ORPHA:2345Malformation syndromeAutosomal dominant, Autosomal recessive, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GDF3 | growth differentiation factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 606522 |
| MEOX1 | mesenchyme homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 600147 |
| GDF6 | growth differentiation factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 601147 |
Фенотипы (HPO)33
Очень частый (80–99%)8
HP:0000324Facial asymmetry
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000925Abnormality of the vertebral column
HP:0002162Low posterior hairline
HP:0004602Cervical C2/C3 vertebral fusion
HP:0005640Abnormal vertebral segmentation and fusion
HP:0005986Limitation of neck motion
Частый (30–79%)10
HP:0000119Abnormality of the genitourinary system
HP:0000365Hearing impairment
HP:0000772Abnormal rib morphology
HP:0000912Sprengel anomaly
HP:0002315Headache
HP:0002650Scoliosis
HP:0003043Abnormality of the shoulder
HP:0003298Spina bifida occulta
HP:0005988Congenital muscular torticollis
HP:0030833Neck pain
Периодический (5–29%)15
HP:0000086Ectopic kidney
HP:0000175Cleft palate
HP:0001291Abnormal cranial nerve morphology
HP:0001629Ventricular septal defect
HP:0002023Anal atresia
HP:0002414Spina bifida
HP:0003416Spinal canal stenosis
HP:0004374Hemiplegia/hemiparesis
HP:0004397Ectopic anus
HP:0005107Abnormal sacrum morphology
HP:0008678Renal hypoplasia/aplasia
HP:0030680Abnormal cardiovascular system morphology
HP:0034980Synkinesis
HP:0100543Cognitive impairment
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)