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Microgastria-limb reduction defect syndrome
Microgastria-limb reduction defect syndrome is a rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.
ORPHA:2538Classification level: Disorder
Most of the 50 cases of congenital microgastria reported in the literature are associated with other multiple congenital anomalies: limb-reduction defects (unilateral or bilateral absence of the thumbs, absence of the radius and ulna, total amelia), asplenia, intestinal malrotation, hepatic symmetry, cardiopulmonary anomalies, central nervous system and renal anomalies, and laryngo-tracheo-bronchial clefts. Isolated congenital microgastria is an extremely rare condition; only three cases have been reported in the literature so far. The small reservoir capacity of the stomach leads to megaesophagus, an incompetent gastroesophageal sphincter, reluctance to feed, persistent vomiting, malnutrition, and recurrent respiratory tract infections. The clinical manifestations of congenital microgastria depend on the stage at which the embryologic development of the stomach is arrested. They are often apparent at birth.
The microgastria-limb reduction association is believed to arise as a result of aberant mesodermal development in the fourth or fifth week of embryonic life but the aetiology of this syndrome is unknown. Arrest of development after about the eighth week of fetal life was supposed in a case of isolated congenital microgastria. A critical role for the notochord was presumed. Three out of 13 cases of microgastria-limb reduction complex involved twins, suggesting that the origin of the disorder may be related to the process of twinning itself.
In children with severe reflux symptoms since birth, detailed upper gastrointestinal contrast studies should be carried out to check for reduced gastric reservoir capacity.
There is no evidence of Mendelian inheritance of microgastria-limb reduction defect.
Management and treatment
Prolonged medical management is not beneficial in congenital microgastria, because the stomach size does not increase significantly with the passage of time. In the absence of other associated life-threatening congenital anomalies, this condition can be managed successfully with early gastric augmentation leading to toleration of increasing amounts of oral feeding. Early operative treatment (Hunt-Lawrence pouch) improves nutritional management and facilitates the achievement of normal growth and development.
The outcome for most of the reported patients with severe microgastria was either death or extreme malnutrition.