Meckel syndrome
Last updated 18 Aug 2020
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
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.
Description
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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
MKS
Related patient information and medicines
Patient information leaflet
Rectal bleeding in children
Part of the gut folds ov... There are frequent episodes of tummy pain with vomiting and swelling of the tummy. Bowel polyps Bowel polyps usually cause painless repeated bleeding. Meckel's diverticulitis A Meckel's diverticulum is a bulge in the wall of the gut that is present at birth. it is the most common congenital abnormality of the bowel..
Patient information leaflet
Klinefelter's syndrome
Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. It is sometimes just called XXY. Betwee... It is a sex chromosome trisomy. Instead of being 46, XY, men or boys with KS are usually 47, XXY. Dr Harry F. Klinefelter first described this syndrome in the USA in 1942. The condition.
Patient information leaflet
Oral allergy syndrome
Oral allergy syndrome causes symptoms around the mouth that are triggered by certain foods. It is associated with other conditions caused by plant allergies, such as hay fever and allergy to birch pollen. It's also called pollen-food syndrom... What is oral allergy syndrome. Oral allergy syndrome (OAS) is an allergic condition which causes itching.
Patient information leaflet
Chronic fatigue syndrome
Chronic fatigue syndrome (CFS), sometimes known as myalgic encephalomyelitis (ME) or myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) , is a condition where there is long-term disabling tiredness (fatigue). Most people with also have one or more other symptoms such as muscular pains, joint pains, disturbed sleep patterns, poor.
Patient information leaflet
Cyclical vomiting syndrome
Cyclical vomiting syndrome is a condition which occurs mainly in children but can also affect adults. It is more common in people who have migraines. Children have severe episodes of feeling sick (nausea) and being sick (vomiting), sometimes with other symptoms. In between these episodes the person is completely well. There are various treatments.
Patient information leaflet
Cervical rib
About 1 in 100 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. Treatment can include painkillers, physiotherapy and sometimes surgery to relieve the compression caused.
Further reading and references
- Meckel syndrome; MedlinePlus, National Library of Medicine.
- Logan CV, Abdel-Hamed Z, Johnson CA. Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. Mol Neurobiol. 2011 Feb;43(1):12-26. doi: 10.1007/s12035-010-8154-0. Epub 2010 Nov 27.
- Salonen R, Kestila M, Bergmann C. Clinical utility gene card for: Meckel syndrome. Eur J Hum Genet. 2011 Jul;19(7). doi: 10.1038/ejhg.2010.255. Epub 2011 Feb 2. No abstract available.
- Salonen R, Paavola P. Meckel syndrome. J Med Genet. 1998 Jun;35(6):497-501. doi: 10.1136/jmg.35.6.497.
- Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestila M. Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Hum Mutat. 2009 Aug;30(8):E813-30. doi: 10.1002/humu.21057.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.