National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Meckel syndrome


Other Names:
Meckel Gruber syndrome; Gruber syndrome; Dysencephalia splachnocystica; Meckel Gruber syndrome; Gruber syndrome; Dysencephalia splachnocystica; MKS See More
Categories:
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] 
Last updated: 5/30/2012

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.

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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 ] 		0001680
Dilatation
Wider than typical opening or gap
0002617
Elevated amniotic fluid alpha-fetoprotein 0004639
External genital hypoplasia
Underdevelopment of external reproductive organs
0003241
Foot polydactyly
Duplication of bones of the toes
0001829
Hypoplasia of the bladder
Underdeveloped bladder
0005343
Hypotelorism
Abnormally close eyes
Closely spaced eyes
[ more ] 		0000601
Intestinal malrotation 0002566
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Iris coloboma
Cat eye
0000612
Large placenta 0006267
Lobulated tongue
Bumpy tongue
0000180
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Natal tooth
Born with teeth
Teeth present at birth
[ more ] 		0000695
Occipital encephalocele
Brain tissue sticks out through back of skull
0002085
Olfactory lobe agenesis
Olfactory lobe absence
0001341
Omphalocele 0001539
Patent ductus arteriosus 0001643
Polycystic kidney dysplasia 0000113
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ] 		0002089
Radial deviation of finger 0009466
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Short neck
Decreased length of neck
0000470
Single umbilical artery
Only one artery in umbilical cord instead of two
0001195
Splenomegaly
Increased spleen size
0001744
Syndactyly
Webbed fingers or toes
0001159
Webbed neck
Neck webbing
0000465
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
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Last updated: 7/1/2020
Prenatal ultrasound is currently the best method to diagnose Meckel syndrome. The brain abnormalitiy called occipital encephalocele can often be seen starting late in the first trimester. Large cysts on the kidneys can also be seen on an ultrasound, although if there is too little amniotic fluid (oligohydramnios) it make it difficult to detect problems with the kidneys. Experienced ultrasonographers may be able to detect the presence of extra fingers or toes (polydactyly) in the second trimester if oligohydramnios is not present.[1]

A chorionic villus sampling (CVS) or amniocentesis may be performed to confirm the diagnosis. Chorionic villus sampling can be performed at 10-12 weeks and amniocentesis after 14 weeks of pregnancy. If there is not enough amniotic fluid to perfom an amniocentesis, a chorionic villus sampling can be performed instead.[1]
Last updated: 5/30/2012

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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include trisomy 13, Bardet-Biedl syndrome, Hydrolethalus, and Smith-Lemli-Opitz Syndrome.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Meckel syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The University of Washington's Hindbrain Malformation Research Program invites individuals with this condition to participate in their research program. Click on the link for more information on how to participate in their research study.

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

Organizations Providing General Support

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Is it possible to diagnose Meckel syndrome prior to the second trimester of pregnancy? See answer


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