바이스-크루슈카 증후군

유전자 (1건)

유병률 (2건)

• •Worldwide · Cases/families
• •<1 / 1 000 000 · Worldwide · Point prevalence

국제 의학 용어 — 표현형 (HPO · 영문 원본)(29건)

• Ptosis매우 빈번 (99-80%)
• Epicanthus빈번 (79-30%)
• Broad philtrum빈번 (79-30%)
• Abnormality of the outer ear빈번 (79-30%)
• Downslanted palpebral fissures빈번 (79-30%)
• Autistic behavior빈번 (79-30%)
• Delayed speech and language development빈번 (79-30%)
• Hypotonia빈번 (79-30%)
• Motor delay빈번 (79-30%)
• Exaggerated cupid's bow빈번 (79-30%)
• Highly arched eyebrow빈번 (79-30%)
• Short nose빈번 (79-30%)
• Prominent nasal tip빈번 (79-30%)
• Prominent metopic ridge빈번 (79-30%)
• Feeding difficulties빈번 (79-30%)
• Neurodevelopmental delay빈번 (79-30%)
• Cryptorchidism가끔 (29-5%)
• Hypertelorism가끔 (29-5%)
• Hearing impairment가끔 (29-5%)
• Low-set ears가끔 (29-5%)
• Decreased response to growth hormone stimulation test가끔 (29-5%)
• Single transverse palmar crease가끔 (29-5%)
• Abnormal heart morphology가끔 (29-5%)
• Obstructive sleep apnea가끔 (29-5%)
• Clinodactyly of the 5th finger가끔 (29-5%)
• Dysplastic corpus callosum가끔 (29-5%)
• Tube feeding가끔 (29-5%)
• Abnormality of limbs가끔 (29-5%)
• Proximal placement of thumb매우 드묾 (1-4%)