Rare Dermatology News

Disease Profile

Microgastria limb reduction defect

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

notapplicable.svg

Other names (AKA)

Microgastria-limb reduction defects association; MLRD; Congenital microgastria and limb reduction defects

Categories

Congenital and Genetic Diseases; Digestive Diseases

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]

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.

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

[

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

    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.

      References

      1. Microgastria limb reduction defect. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538.

      Rare Dermatology News