치사성 단신

유병률 (8건)

• •1-9 / 100 000 · Europe · Prevalence at birth
• •1-9 / 100 000 · France · Prevalence at birth
• •1-9 / 100 000 · Italy · Prevalence at birth
• •1-9 / 100 000 · Sweden · Prevalence at birth
• •1-9 / 100 000 · Denmark · Prevalence at birth
• •1-9 / 100 000 · Ireland · Prevalence at birth

외 2건 (Orphanet 공식 페이지 참조)

국제 의학 용어 — 표현형 (HPO · 영문 원본)(41건 중 상위 30건 표시)

• Macrocephaly매우 빈번 (99-80%)
• Narrow chest매우 빈번 (99-80%)
• Platyspondyly매우 빈번 (99-80%)
• Abnormal metaphysis morphology매우 빈번 (99-80%)
• Hypotonia매우 빈번 (99-80%)
• Redundant skin매우 빈번 (99-80%)
• Pulmonary hypoplasia매우 빈번 (99-80%)
• Intellectual disability, profound매우 빈번 (99-80%)
• Skeletal dysplasia매우 빈번 (99-80%)
• Micromelia매우 빈번 (99-80%)
• Depressed nasal bridge매우 빈번 (99-80%)
• Disproportionate short-limb short stature매우 빈번 (99-80%)
• Short thorax매우 빈번 (99-80%)
• Increased nuchal translucency매우 빈번 (99-80%)
• Flat face매우 빈번 (99-80%)
• Hearing impairment빈번 (79-30%)
• Proptosis빈번 (79-30%)
• Brachydactyly빈번 (79-30%)
• Intrauterine growth retardation빈번 (79-30%)
• Frontal bossing빈번 (79-30%)
• Ventriculomegaly빈번 (79-30%)
• Gray matter heterotopia빈번 (79-30%)
• Midface retrusion빈번 (79-30%)
• Joint hypermobility가끔 (29-5%)
• Abnormality of the kidney가끔 (29-5%)
• Hydrocephalus가끔 (29-5%)
• Low-set ears가끔 (29-5%)
• Downslanted palpebral fissures가끔 (29-5%)
• Acanthosis nigricans가끔 (29-5%)
• Seizure가끔 (29-5%)