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Disease Profile

Meckel syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q61.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Meckel Gruber syndrome; Gruber syndrome; Dysencephalia splachnocystica;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases;

Summary

Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Because of these serious health problems, most infants with Meckel syndrome do not survive for long after birth. Meckel syndrome is caused by mutations in one of eight genes, and it is inherited in an autosomal-recessive manner.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Congenital hepatic fibrosis
Excessive buildup of connective tissue and scarring of liver at birth
0002612
Encephalocele
0002084
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Multicystic kidney dysplasia
0000003
Postaxial foot polydactyly
Extra toe attached near the little toe
0001830
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
30%-79% of people have these symptoms
Abnormal chorioretinal morphology
0000532
Aplasia/Hypoplasia of the iris
Absent/small iris
Absent/underdeveloped iris

[ more ]

0008053
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cleft palate
Cleft roof of mouth
0000175
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Depressed nasal ridge
Flat nose
Recessed nasal ridge

[ more ]

0000457
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]

0000293
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Lobar holoprosencephaly
0006870
Low-set, posteriorly rotated ears
0000368
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Microphthalmia
Abnormally small eyeball
0000568
Oligohydramnios
Low levels of amniotic fluid
0001562
Optic atrophy
0000648
Sclerocornea
Hardening of skin and connective tissue
0000647
Sloping forehead
Inclined forehead
Receding forehead

[ more ]

0000340
Talipes
0001883
5%-29% of people have these symptoms
Accessory spleen
0001747
Anencephaly
0002323
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball

[ more ]

0000528
Aplasia/Hypoplasia of the corpus callosum
0007370
Aplasia/Hypoplasia of the tongue
0010295
Asplenia
Absent spleen
0001746
Bowing of the long bones
Bowed long bones
Bowing of long bones

[ more ]

0006487
Cystic liver disease
0006706
Dandy-Walker malformation
0001305
Furrowed tongue
Grooved tongue
0000221
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Male pseudohermaphroditism
0000037
Pancreatic cysts
0001737
Pancreatic fibrosis
0100732
Preaxial hand polydactyly
Extra thumb
0001177
Situs inversus totalis
All organs on wrong side of body
0001696
True hermaphroditism
0010459
Ureteral duplication
Double ureter
0000073
Urethral atresia
0000068
Percent of people who have these symptoms is not available through HPO
Abnormal cardiac septum morphology
0001671
Abnormality of the larynx
0001600
Abnormality of the ureter
0000069
Abnormality of the uterus
Uterine abnormalities
Uterine malformations

[ more ]

0000130
Adrenal hypoplasia
Small adrenal glands
0000835
Agenesis of corpus callosum
0001274
Ambiguous genitalia, female
Atypical appearance of female genitals
0000061
Ambiguous genitalia, male
Ambiguous genitalia in males
0000033
Anal atresia
Absent anus
0002023
Arnold-Chiari malformation
0002308
Autosomal recessive inheritance
0000007
Bile duct proliferation
0001408
Breech presentation
Feet or buttocks of fetus positioned near opening of uterus
0001623
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Cerebral hypoplasia
Small cerebrum
Underdeveloped cerebrum

[ more ]

0006872
Cleft upper lip
Harelip
0000204
Clinodactyly
Permanent curving of the finger
0030084
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta

[ more ]

Diagnosis

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Genetics Home Reference (GHR) contains information on Meckel syndrome. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Meckel syndrome. Click on the link to view a sample search on this topic.

          References

          1. Bhagwati Jayakar P, Spiliopoulos M, Jayakar A. Meckel-Gruber Syndrome. eMedicine Journal. September 22, 2011; https://emedicine.medscape.com/article/946672-overview. Accessed 5/30/2012.
          2. Meckel Syndrome. National Organization for Rare Disorders (NORD). April 12, 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract. Accessed 5/30/2012.

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