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

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

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
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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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 Genetics Home Reference.

Organizations Organizations

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

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.

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