Rare Immunology News
Disease Profile
Microgastria limb reduction defect
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
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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 |
| 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 |
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 |
| 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
[
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