Meckel syndrome
अंतिम अद्यतन 18 Aug 2020
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
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.
विवरण
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
बच्चों में मलाशय से रक्तस्राव
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. मेकेल का डायवर्टीकुलाइटिस ए मेकेल का डायवर्टिकुलम 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
क्लाइनफेल्टर सिंड्रोम
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 में 1942. The condition.
Patient information leaflet
मौखिक एलर्जी सिंड्रोम
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
क्रोनिक थकान सिंड्रोम
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
चक्राकार उल्टी सिंड्रोम
चक्राकार उल्टी सिंड्रोम है 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
गर्दन की पसली
About 1 in 100 people हैं 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.
अधिक पठन और संदर्भ
- 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.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.