Display Settings:

Format

Send to:

Choose Destination

Meckel syndrome type 2(MKS2)

MedGen UID:
351059
Concept ID:
C1864148
Disease or Syndrome
Synonyms: MECKEL-GRUBER SYNDROME, TYPE 2; MKS2; MKS2-Related Meckel Syndrome; TMEM216-Related Meckel Syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): TMEM216 (11q12.2)
OMIM®: 603194

Definition

Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (249000). [from OMIM]

Additional description

From GHR
Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver. Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia. Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.  http://ghr.nlm.nih.gov/condition/meckel-syndrome

Clinical features

Intrauterine growth retardation
MedGen UID:
342890
Concept ID:
C1853481
Finding
Renal cyst
MedGen UID:
776573
Concept ID:
C2173677
Finding
A cyst is a fluid-filled sac. There are two types of kidney cysts. . Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. About half of people with the most common type of PKD end up with kidney failure. PKD also causes cysts in other parts of the body, such as the liver. . Symptoms of PKD include. -Pain in the back and lower sides. -Headaches. -Urinary tract infections. -Blood in the urine. Doctors diagnose PKD with imaging tests and family history. Treatments include medications, and, when people with PKD develop kidney failure, dialysis or kidney transplants. Acquired cystic kidney disease (ACKD) usually happens in people who are on dialysis. Unlike PKD, the kidneys are normal sized, and cysts do not form in other parts of the body. People with ACKD already have chronic kidney disease when they develop cysts. ACKD often has no symptoms. In most cases, the cysts are harmless and do not need treatment. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Cleft palate
MedGen UID:
504379
Concept ID:
CN000170
Finding
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Encephalocele
MedGen UID:
505091
Concept ID:
CN001885
Finding
A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Anencephaly
MedGen UID:
776557
Concept ID:
C2021655
Finding
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Encephalocele
MedGen UID:
505091
Concept ID:
CN001885
Finding
A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
Meningocele
MedGen UID:
505234
Concept ID:
CN002211
Finding
Protrusion of the meninges through a defect of the vertebral column.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Finding
Polydactyly
MedGen UID:
776570
Concept ID:
C2117329
Finding
Postaxial hand polydactyly
MedGen UID:
427858
Concept ID:
CN001092
Finding
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Encephalocele
MedGen UID:
505091
Concept ID:
CN001885
Finding
A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
Meningocele
MedGen UID:
505234
Concept ID:
CN002211
Finding
Protrusion of the meninges through a defect of the vertebral column.
Bile duct proliferation
MedGen UID:
504833
Concept ID:
CN001289
Finding
Proliferative changes of the bile ducts.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Finding
Polydactyly
MedGen UID:
776570
Concept ID:
C2117329
Finding
Postaxial hand polydactyly
MedGen UID:
427858
Concept ID:
CN001092
Finding
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).

Professional guidelines

PubMed

Salonen R, Kestilä M, Bergmann C
Eur J Hum Genet 2011 Jul;19(7) Epub 2011 Feb 2 doi: 10.1038/ejhg.2010.255. [Epub ahead of print] PMID: 21368913Free PMC Article

Recent clinical studies

Etiology

Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM
Eur J Hum Genet 2013 Oct;21(10):1074-8. Epub 2013 Feb 6 doi: 10.1038/ejhg.2012.305. [Epub ahead of print] PMID: 23386033Free PMC Article
Mason SB, Lai X, Ringham HN, Bacallao RL, Harris PC, Witzmann FA, Gattone VH 2nd
Nephron Exp Nephrol 2011;117(2):e31-8. Epub 2010 Aug 6 doi: 10.1159/000319722. [Epub ahead of print] PMID: 20693816Free PMC Article
Aleksic S, Budzilovich G, Greco MA, Reuben R, Feigin I, Pearson J, Epstein F
Childs Brain 1984;11(2):99-111. PMID: 6723431

Diagnosis

Kurtulmuş S, Demirpençe S, Can Öztekin D, Koç A, Tavlı V
Turk Kardiyol Dern Ars 2014 Mar;42(2):182-5. PMID: 24643152
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM
Eur J Hum Genet 2013 Oct;21(10):1074-8. Epub 2013 Feb 6 doi: 10.1038/ejhg.2012.305. [Epub ahead of print] PMID: 23386033Free PMC Article
Stoll C, Dott B, Alembik Y, Roth MP
Birth Defects Res A Clin Mol Teratol 2012 Mar;94(3):147-52. Epub 2012 Jan 13 doi: 10.1002/bdra.22877. [Epub ahead of print] PMID: 22246853
Bendon RW
Pediatr Dev Pathol 1999 Jan-Feb;2(1):94-100. PMID: 9841713
Aleksic S, Budzilovich G, Greco MA, Reuben R, Feigin I, Pearson J, Epstein F
Childs Brain 1984;11(2):99-111. PMID: 6723431

Clinical prediction guides

Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM
Eur J Hum Genet 2013 Oct;21(10):1074-8. Epub 2013 Feb 6 doi: 10.1038/ejhg.2012.305. [Epub ahead of print] PMID: 23386033Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...