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81. Meckel Syndrome
disorder subdivision(s) covered by this report. Synonyms DysencephaliaSplanchnocystica; Gruber Syndrome; MeckelGruber Syndrome; MES;
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Health Topics Symptoms ... For a Complete Report Meckel Syndrome Important It is possible that the main title of the report Meckel Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms
  • Dysencephalia Splanchnocystica Gruber Syndrome Meckel-Gruber Syndrome MES MKS
Disorder Subdivisions
  • Meckel Syndrome Type 1 Meckel Syndrome Type 2 Meckel Syndrome Type 3
General Discussion Meckel syndrome is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body (multisystem). Three classic symptoms are normally associated with Meckel syndrome: protrusion of a portion of the brain and its surrounding membranes (meninges) through a defect in the back or front of the skull (occipital encephalocele), multiple cysts on the kidneys (polycystic kidneys), and extra fingers and/or toes (polydactyly). Affected children may also have abnormalities affecting the head and face (craniofacial area), liver, lungs, and genitourinary tract. Meckel syndrome is inherited as an autosomal recessive trait. Resources Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2304

82. Meckel Syndrome
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    Dysencephalia splanchnocystica
      îíàäè çìåíøåí³, äèñïëàñòè÷í³. Äëÿ õëîï÷èê³â õàðàêòåðí³ êðèïòîðõ³çì, ã³ïîïëàç³ÿ çîâí³øí³õ ñòàòåâèõ îðãàí³â. Ó ä³â÷àòîê – äâîðîãà ìàòêà, àòðåç³ÿ ï³õâè, ïåðåòèíêà ï³õâè. Ïðîì³æíà áóäîâà ãåí³òàë³é çóñòð³÷àºòüñÿ ïðè ÷îëîâ³÷îìó ïñåâäîãåðìàôðîäèòèçì³ ç êàð³îòèïîì 46 XY. Îâîòåñò³ñ ìîæëèâèé, àëå áóâຠð³äêî. Âàäè ðîçâèòêó ê³íö³âîê òðàïëÿþòüñÿ ÷àñòî ³ º îäí³ºþ ç ä³àãíîñòè÷íèõ îçíàê äàíîãî ñèíäðîìó. Õàðàêòåðíà ïîë³äàêòèë³ÿ, ÿê ïðàâèëî, ïîñòàêñ³àëüíà íà íèæí³õ ³, ÷àñò³øå, íà âåðõí³õ ê³íö³âêàõ. Ïîë³äàêòèë³ÿ ìîæå ïîºäíóâàòèñÿ ³ç ñèíäàêòè볺þ (÷àñò³øå II – III ïàëüö³â ñòóïí³â). Îïèñàíà óëüíàðíà äåâ³àö³ÿ ðóê òà êëèøîíîã³ñòü.
        C³äíè÷íå ïåðåäëåæàííÿ ïëîäà, ìàëîâ³ääÿ.
          Ñèíäðîì ìîæíà ä³àãíîñòóâàòè ïðåíàòàëüíî, âèêîðèñòîâóþ÷è óëüòðàñîíîãðàô³þ òà âèçíà÷åííÿ ð³âíÿ àëüôà-ôåòîïðîòå¿íó. Ðèçèê äàíîãî ñèíäðîìó çíà÷íî çðîñòàº, ÿêùî â ñ³ì’ ¿ âæå áóëè õâîð³ ñ³áñè. Çà äîïîìîãîþ óëüòðàñîíîãðàô³¿ ìîæíà ä³àãíîñòóâàòè åíöåôàëîöåëå òà ïîë³êèñòîç íèðîê. гâåíü àëüôà-ôåòîïðîòå¿íó â ñèðîâàòö³ ìàòåð³ òà íàâêîëîïë³äíèõ âîäàõ çðîñòຠïðè íàÿâíîñò³ ó ïëîäà ÷åðåïíî-ìîçêîâî¿ êèëè ÷è àíåíöåôà볿. Öå õàðàêòåðíî äëÿ II òðèìåñòðó âàã³òíîñò³.
      • Fraser FC, Lytwyn A. Spectrum of anomalies in the Meckel syndrome: or, "Maybe there is a malformation syndrome with at least one constant anomaly". American Journal of Medical Genetics 1981;9:67-73.

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syndrome = RothmundThomson syndrome Progeria of the adult = Werner syndrome Dysencephaliasplanchnocystica = MeckelGruber syndrome MarinescoSjogren syndrome
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