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Microgastria limb reduction defect


Title




Other Names:
Microgastria-limb reduction defects association; MLRD; Congenital microgastria and limb reduction defects
Categories:
Congenital and Genetic Diseases; Digestive Diseases

Summary Summary


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Microgastria limb reduction defect is a rare disorder with less than 60 previously reported cases. Children born with this condition have a small stomach (microgastria) and limb abnormalities. Symptoms may include vomiting, aspiration pneumonia and growth problems. Abnormalities involving the heart, lungs, kidney and gastrointestinal system are also symptoms of this condition. This condition is caused by an error that occurs during the development of the embryo. Treatment may involve reconstructive surgery (Hunt-Lawrence pouch) to help improve the child's feeding abilities.[1]
Last updated: 2/27/2014

Symptoms Symptoms


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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.

Showing of 65 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the radius 0002818
Abnormality of the spleen 0001743
Esophagitis
Inflammation of the esophagus
0100633
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Feeding difficulties
Feeding problems
Poor feeding
[ more ]
0011968
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ]
0002020
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
0001510
Hiatus hernia
Stomach hernia
0002036
Microgastria 0100841
Short thumb
Short thumbs
Small thumbs
[ more ]
0009778
30%-79% of people have these symptoms
Abnormality of the humerus 0003063
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Congenital muscular torticollis 0005988
Frontal bossing 0002007
Multicystic kidney dysplasia 0000003
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
0001357
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ]
0011220
Renal dysplasia 0000110
5%-29% of people have these symptoms
Abnormal cortical gyration 0002536
Abnormal lung lobation 0002101
Absent hand 0004050
Absent septum pellucidum 0001331
Agenesis of corpus callosum 0001274
Amelia 0009827
Anal atresia
Absent anus
0002023
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ]
0000528
Aplastic clavicle
Absent collarbone
0006660
Arrhinencephaly 0002139
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
0001631
Crossed fused renal ectopia 0004736
Ectrodactyly
Cleft hand
Lobster claw hand
[ more ]
0100257
Elbow dislocation
Dislocations of the elbows
Elbow dislocations
[ more ]
0003042
Esophageal atresia
Birth defect in which part of esophagus did not develop
0002032
Hepatomegaly
Enlarged liver
0002240
Horseshoe kidney
Horseshoe kidneys
0000085
Intestinal malrotation 0002566
Microphthalmia
Abnormally small eyeball
0000568
Oligodactyly 0012165
Perineal fistula 0004871
Phocomelia 0009829
Rectal atresia 0025023
Rectovaginal fistula
Abnormal connection between rectum and vagina
0000143
Renal agenesis
Absent kidney
Missing kidney
[ more ]
0000104
Tracheoesophageal fistula 0002575
Truncus arteriosus 0001660
Percent of people who have these symptoms is not available through HPO
Absent gallbladder 0011467
Absent thumb
Absent thumbs
0009777
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Asplenia
Absent spleen
0001746
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus
[ more ]
0000813
Biliary tract abnormality 0001080
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Cystic renal dysplasia 0000800
Fusion of the left and right thalami 0010664
Hand oligodactyly
Hand has less than 5 fingers
0001180
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Pelvic kidney 0000125
Polymicrogyria
More grooves in brain
0002126
Porencephalic cyst
Cavity within brain
0002132
Secundum atrial septal defect 0001684
Splenogonadal fusion 0025410
Sporadic
No previous family history
0003745
Type I truncus arteriosus 0004384
Unilateral renal agenesis
Absent kidney on one side
Missing one kidney
Single kidney
[ more ]
0000122
Showing of 65 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Organizations Organizations


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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

  • Birth Defect Research for Children, Inc.
    976 Lake Baldwin Lane, Suite 104
    Orlando, FL 32814
    Telephone: +1-407-895-0802
    E-mail: staff@birthdefects.org
    Website: https://www.birthdefects.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

In-Depth Information

  • 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 Microgastria limb reduction defect. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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

  • Where can I find more information about this syndrome? My daughter has it. Is there any group for parents of children with this? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Microgastria limb reduction defect. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538.
Do you know of a review article? We want to hear from you.
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rare disease research!
You can help advance rare disease research!
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