클리펠-파일증후군

유전자 (3건)

유병률 (2건)

• •1-9 / 100 000 · Europe · Point prevalence
• •1-9 / 1 000 000 · Europe · Prevalence at birth

국제 의학 용어 — 표현형 (HPO · 영문 원본)(33건 중 상위 30건 표시)

• Facial asymmetry매우 빈번 (99-80%)
• Webbed neck매우 빈번 (99-80%)
• Short neck매우 빈번 (99-80%)
• Abnormality of the vertebral column매우 빈번 (99-80%)
• Low posterior hairline매우 빈번 (99-80%)
• Cervical C2/C3 vertebral fusion매우 빈번 (99-80%)
• Abnormal vertebral segmentation and fusion매우 빈번 (99-80%)
• Limitation of neck motion매우 빈번 (99-80%)
• Abnormality of the genitourinary system빈번 (79-30%)
• Hearing impairment빈번 (79-30%)
• Abnormal rib morphology빈번 (79-30%)
• Sprengel anomaly빈번 (79-30%)
• Headache빈번 (79-30%)
• Scoliosis빈번 (79-30%)
• Abnormality of the shoulder빈번 (79-30%)
• Spina bifida occulta빈번 (79-30%)
• Congenital muscular torticollis빈번 (79-30%)
• Neck pain빈번 (79-30%)
• Ectopic kidney가끔 (29-5%)
• Cleft palate가끔 (29-5%)
• Abnormal cranial nerve morphology가끔 (29-5%)
• Ventricular septal defect가끔 (29-5%)
• Anal atresia가끔 (29-5%)
• Spina bifida가끔 (29-5%)
• Spinal canal stenosis가끔 (29-5%)
• Hemiplegia/hemiparesis가끔 (29-5%)
• Ectopic anus가끔 (29-5%)
• Abnormal sacrum morphology가끔 (29-5%)
• Renal hypoplasia/aplasia가끔 (29-5%)
• Abnormal cardiovascular system morphology가끔 (29-5%)