같은 항목분류에 속한 다른 질환을 검색합니다.
국가관리대상 희귀질환 목록
국가관리대상 희귀질환목록 (KCD코드, 질환명,환자등록기준)를 제공하는 테이블
KCD코드 |
질환명 |
환자등록기준 |
없음 |
클리프스트라 증후군 Kleefstra syndrome |
신규등록
재등록
|
코드없음클리프스트라 증후군 (Kleefstra syndrome)
질환주요정보
관련질환명, 영향부위, 증상, 원인 진단, 치료, 잔정특례코드, 의료비지원여부로 이루어진 질환주요정보 게시판입니다.
관련질환명 |
Chromosome 9q34.3 deletion syndrome 9q- syndrome 9q subtelomeric deletion syndrome |
영향부위 |
체내 : 뇌, 심장 체외 : 눈 |
증상 |
Chromosome 9q34.3 deletion syndrome|9q- syndrome|9q subtelomeric deletion syndrome |
원인 |
유전자이상 |
진단 |
유전자검사 |
치료 |
보존적 치료 |
산정특례코드 |
V900 |
의료비지원 |
지원 |
※ 질환별 정확한 의료비지원대상 여부 및 지원범위는 ‘지원사업 > 의료비지원사업 > 대상질환’에서 확인하시기 바랍니다.
질환세부정보
- 아래 메뉴를 선택하시면 해당 내용으로 바로 이동이 가능합니다.
관련임상시험
-
개요 General Discussion
- <p class="0" style="line-height:200%; margin-bottom:10pt; mso-padding-alt:0.0pt 0.0pt 0.0pt 0.0pt; mso-pagination:none"><span style="mso-fareast-font-family:휴먼명조">지능저하</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">유아기의 근긴장 저하</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">심한 언어지연과 특징적인 얼굴 기형이 나타나는 유전질환이다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">현재까지 약 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">114</span><span style="mso-fareast-font-family:휴먼명조">례가 보고되었다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">염색체 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">9q34.3</span><span style="mso-fareast-font-family:휴먼명조">의 아종말체</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">(subtelomere) </span><span style="mso-fareast-font-family:휴먼명조">부위에 미세한 결실로 인하여 소두나 납작머리</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">양안 격리증</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">일자 또는 아치형 눈썹</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">중간 얼굴의 저형성</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">짧은 코</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">크고 작은 눈</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">귀</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">뒤집어진 아랫 입술등의 특징적인 얼굴 형태 및 언어와 운동 지연을 동반한 심각한 근긴장 저하</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">선천성 심장 결함 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">(</span><span style="mso-fareast-font-family:휴먼명조">주로 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">ASD </span><span style="mso-fareast-font-family:휴먼명조">또는 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">VSD), </span><span style="mso-fareast-font-family:휴먼명조">생식기</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">사지의 기형 등의 특징적인 증상을 보이는 질환이다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">형광동소보합결합법으로 확진될 수 있는 증후군 중의 하나이다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">.</span></p>
-
증상 Symptoms
- <p class="1" style="line-height:200%; mso-padding-alt:0.0pt 0.0pt 0.0pt 0.0pt; mso-pagination:none"><span style="mso-fareast-font-family:휴먼명조">이 질환을 가진 사람들은 소두증</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">납작머리증</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">얼굴 중간부의 형성이상</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">눈썹모양이상</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">화살모양의 윗입술</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">아랫입술의 완전외반</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">돌출된 혀</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">주걱턱 등의 특징적인 얼굴 기형을 보인다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">나이가 들면 얼굴 기형이 점점 심해지고 치아 문제도 생긴다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">출생시 몸무게는 정상이지만 절반 이상의 환자들이 비만이 된다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">유아기의 근긴장 저하는 운동발달의 지연을 일으키지만 대부분 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">2-3</span><span style="mso-fareast-font-family:휴먼명조">세에는 걸을 수 있다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">심한 지능저하와 언어표현의 지연을 보이는 경우가 많으며 선천성 심장기형과 남자의 경우 요도하열</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">잠복고환</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">음경왜소과 같은 문제도 발생할 수 있으며</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">수신증</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">만성 신부전</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">신낭종</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">방광요관역류 와 같은 신장의 문제</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">간질</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">반복적인 감염</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">심한 변비</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">청력 저하 등을 보이기도 한다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">청년이나 성인이 되면 행동장애</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">(</span><span style="mso-fareast-font-family:휴먼명조">공격적 행동</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">주의집중 장애</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">자폐성향</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">자해</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">심각한 수면장애 등</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">) </span><span style="mso-fareast-font-family:휴먼명조">가 발생할 수 있다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">자폐성향의 행동은 어린이 시기에 일찍 발견되기도 한다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">잦은 호흡기계 감염</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">과체중</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">행동장애등은 점돌연변이를 가진 환자에게서 보고되고 있으며</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">소두증</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">저신장</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">기관연골연화증 등은 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">9q34 </span><span style="mso-fareast-font-family:휴먼명조">미세결절로 인한 환자에게서 보고되고 있다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">.</span></p>
-
원인 Causes
- <p class="1" style="line-height:200%; mso-padding-alt:0.0pt 0.0pt 0.0pt 0.0pt; mso-pagination:none"><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">Euchromatic-histone-lysine N-methltransferase 1(EHMT1)</span><span style="mso-fareast-font-family:휴먼명조">유전자의 점돌연변이나 염색체</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">9q34.3 </span><span style="mso-fareast-font-family:휴먼명조">부위의 미세결절 에 의해 전체 유전자의 결손을 초래하여 발생된다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">이 유전자는 히스톤의 기능을 조절하는 효소를 코딩하여 정상 발달에 필수적으로</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, 1mb</span><span style="mso-fareast-font-family:휴먼명조">이상의 큰 결손은 더욱 심한 증상을 유발하게 된다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">이론적으로 상염색체 우성 유전을 하지만</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">대부분의 환자의 자녀에서 재현되지 않았다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">.</span></p>
-
진단 Diagnosis
- <p class="0" style="line-height:200%; margin-bottom:10pt; mso-padding-alt:0.0pt 0.0pt 0.0pt 0.0pt; mso-pagination:none"><span lang="EN-US"> </span><span style="mso-fareast-font-family:휴먼명조">진단은 유전자 검사와 특징적인 임상증상을 통해 진단한다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">마이크로어레이로 유전자의 중복이나 결손을 확인할 수 있다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">형광제자리부합법 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">(Fluorescent in situ hybridization, FISH)</span><span style="mso-fareast-font-family:휴먼명조">이나 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">multiplex ligation-dependent probe amplification (MLPA)</span><span style="mso-fareast-font-family:휴먼명조">은 특정한 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">9q34.3</span><span style="mso-fareast-font-family:휴먼명조">의 결손을 발견하는데 사용될 수 있다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. EHMT1</span><span style="mso-fareast-font-family:휴먼명조">유전자의 전체 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">coding region </span><span style="mso-fareast-font-family:휴먼명조">에 대하여 염기서열 분석하는 것도 유전자 이상을 발견하는데 도움이 된다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. 9qSTDS</span><span style="mso-fareast-font-family:휴먼명조">의 질병에 이완된 환아는 선천성 심장 기형의 가능성이 높기 때문에</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">증상이 없더라도 경식도 초음파가 시행되어야 한다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">또한 선천적 청력 장애와 시력 장애을 가지고 있을 가능성이 높기 때문에 청력과 시력검사가 시행되어야 한다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">수신증의 진단을 위해 신장 초음파가 필요하다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">발작의 발생 위험에 대한 관찰이 필요하며 필요시 뇌파</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">머리 단층촬영</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">(CT), </span><span style="mso-fareast-font-family:휴먼명조">머리 뇌자기공명영상검사</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">(MRI) </span><span style="mso-fareast-font-family:휴먼명조">등의 영상검사를 시행할 수 있다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">염색체 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">9q </span><span style="mso-fareast-font-family:휴먼명조">아종말체 결실 증후군의 상대적</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">/</span><span style="mso-fareast-font-family:휴먼명조">절대적인 수두증과 납작 머리</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">튀어나온 혀</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">비스듬히 갈라진 눈썹</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">짧은 코는 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">Down syndrome </span><span style="mso-fareast-font-family:휴먼명조">과 혼동될 수 있으며</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">납작 머리</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">편평하고 저형성된 중간 얼굴</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">일자눈썹과 주걱턱은 </span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">Smith-Magenis syndrome</span><span style="mso-fareast-font-family:휴먼명조">으로 오인될 수 있어 이들 질환과의 감별이 필요하다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span></p>
-
치료 Treatment
- <p class="treatmentList"> <span style="mso-fareast-font-family:휴먼명조">치료는 증상과 관련된 문제를 해결하기 위한 다학제적 접근이 필요하다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">언어 훈련</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">물리치료</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">작업치료 등을 조기에 시작하는 것이 좋다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">유아의 경우 근 긴장저하에 따른 흡입 및 위식도 역류가 반복되는 흡입성 폐렴 및 사망에 이르게 할 수 있으므로 이에 대한 예방책도 고려되어야 한다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span lang="EN-US"> </span><span style="mso-fareast-font-family:휴먼명조">신장</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">심장</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">, </span><span style="mso-fareast-font-family:휴먼명조">청력 문제가 있을 경우 문제에 따른 표준치료를 시행해야 하며 정기적인 검사로 기능 상태를 확인하는 것이 권장된다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">때로는 행동장애와 관련하여 정신과적 접근도 필요하다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">생애 전반에 걸쳐 지속적인 관찰이 필요하다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span><span style="mso-fareast-font-family:휴먼명조">환자의 가족들을 대상으로 유전 상담을 시행한다</span><span lang="EN-US" style="mso-ascii-font-family:휴먼명조; mso-font-width:100%; mso-text-raise:0.0pt">. </span></p>
-
참고문헌 및 사이트 Bibliography&Site
- DOUGLAS R. STEWART* AND TJITSKE KLEEFSTRA. The Chromosome 9q Subtelomere Deletion Syndrome : American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 145C:383?392 (2007)<br />
<br />
http://omim.org/entry/610253?search=9q%20subtelomere&highlight=9q%20subtelomere<br />
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261494