Meckel syndrome: Difference between revisions
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{{Infobox_Disease | | {{Infobox_Disease | | ||
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==Historical Perspective== | ==Historical Perspective== | ||
It is named for Johann Meckel and Georg Gruber.<ref>{{WhoNamedIt|synd|2055}}</ref><ref>J. F. Meckel. Beschreibung zweier durch sehr ähnliche Bildungsabweichungen entstellter Geschwister. Deutsches Archiv für Physiologie, 1822, '''7''': 99-172. </ref><ref>G. B. Gruber. Beiträge zur Frage "gekoppelter" Missbildungen (Akrocephalossyndactylie und Dysencephalia splancnocystica. Beitr path Anat, 1934, '''93''': 459-476.</ref> | It is named for Johann Meckel and Georg Gruber.<ref>{{WhoNamedIt|synd|2055}}</ref><ref>J. F. Meckel. Beschreibung zweier durch sehr ähnliche Bildungsabweichungen entstellter Geschwister. Deutsches Archiv für Physiologie, 1822, '''7''': 99-172. </ref><ref>G. B. Gruber. Beiträge zur Frage "gekoppelter" Missbildungen (Akrocephalossyndactylie und Dysencephalia splancnocystica. Beitr path Anat, 1934, '''93''': 459-476.</ref> | ||
==Epidemiology and Demographics== | |||
While not precisely known, it is estimated that the general rate of [[incidence (epidemiology)|incidence]], according to Dr. Bergman<ref>Bergsma, D (1979). ''Birth Defects''. Atlas and Compendium. National Foundation [http://www.marchofdimes.com <u>March of Dimes</u>]. The Macmillan Press Ltd.([[London]])</ref>, for Meckel syndrome is 0.02 per 10,000 births. According to another study done six years later, the incidence rate could vary from 0.07 to 0.7 per 10,000 births<ref>Salonen R, Norio R (1984).''The Meckel syndrome: Clinicopathological Findings in 67 Patients''. [http://www3.interscience.wiley.com/cgi-bin/jhome/110481900 <u>American Journal of Medical Genetics</u>], '''18''': 671 - 689</ref>. | |||
The frequency of this syndrome is much higher in Finland, where the incidence is as high as 1.1 per 10,000 births. It is estimated that Meckel syndrome accounts for 5% of all [[neural tube defect]]s there.<ref>Nyberg DA, et al (1990). ''Meckel-Gruber syndrome; Importance of [[Prenatal]] [[Diagnosis]]''. [http://www.jultrasoundmed.org/ <u>Journal of Ultrasound Medicine</u>], '''9''', 691 - 696.</ref> | |||
==Diagnosis== | ==Diagnosis== | ||
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Finding at least two of the three features of the classical triad, in the presence of normal [[karyotype]], makes the diagnosis solid. Regular [[ultrasound]]s and pro-active prenatal care can usually detect [[symptom]]s early on in a [[pregnancy]]. | Finding at least two of the three features of the classical triad, in the presence of normal [[karyotype]], makes the diagnosis solid. Regular [[ultrasound]]s and pro-active prenatal care can usually detect [[symptom]]s early on in a [[pregnancy]]. | ||
==References== | ==References== | ||
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{{Congenital malformations of urinary system}} | {{Congenital malformations of urinary system}} | ||
[[Category:Needs content]] | |||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Autosomal recessive disorders]] | [[Category:Autosomal recessive disorders]] | ||
Latest revision as of 14:25, 28 September 2012
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| Meckel syndrome | |
| ICD-10 | Q61.9 |
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| OMIM | 249000 |
| DiseasesDB | 31661 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Meckel-Gruber Syndrome; Gruber Syndrome; Dysencephalia Splanchnocystica;
Overview
Meckel syndrome is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, and hepatic developmental defects.
Historical Perspective
It is named for Johann Meckel and Georg Gruber.[1][2][3]
Epidemiology and Demographics
While not precisely known, it is estimated that the general rate of incidence, according to Dr. Bergman[4], for Meckel syndrome is 0.02 per 10,000 births. According to another study done six years later, the incidence rate could vary from 0.07 to 0.7 per 10,000 births[5].
The frequency of this syndrome is much higher in Finland, where the incidence is as high as 1.1 per 10,000 births. It is estimated that Meckel syndrome accounts for 5% of all neural tube defects there.[6]
Diagnosis
Dysplastic kidneys are prevalent in 95% to 100% of all identified cases. When this occurs, microscopic cysts develop within the kidney and slowly destroy it, causing it to enlarge to 10 to 20 times its original size. The level of amniotic fluid within the womb may be significantly altered or remain normal, and a normal level of fluid should not be criteria for exclusion of diagnosis.
Occipital encephalocele is present in 60% to 80% of all cases, and post-axial polydactyly is present in 55% to 75% of the total number of identified cases. Bowing or shortening of the limbs are also common.
Finding at least two of the three features of the classical triad, in the presence of normal karyotype, makes the diagnosis solid. Regular ultrasounds and pro-active prenatal care can usually detect symptoms early on in a pregnancy.
References
- ↑ Template:WhoNamedIt
- ↑ J. F. Meckel. Beschreibung zweier durch sehr ähnliche Bildungsabweichungen entstellter Geschwister. Deutsches Archiv für Physiologie, 1822, 7: 99-172.
- ↑ G. B. Gruber. Beiträge zur Frage "gekoppelter" Missbildungen (Akrocephalossyndactylie und Dysencephalia splancnocystica. Beitr path Anat, 1934, 93: 459-476.
- ↑ Bergsma, D (1979). Birth Defects. Atlas and Compendium. National Foundation March of Dimes. The Macmillan Press Ltd.(London)
- ↑ Salonen R, Norio R (1984).The Meckel syndrome: Clinicopathological Findings in 67 Patients. American Journal of Medical Genetics, 18: 671 - 689
- ↑ Nyberg DA, et al (1990). Meckel-Gruber syndrome; Importance of Prenatal Diagnosis. Journal of Ultrasound Medicine, 9, 691 - 696.