Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is an extremely rare congenital condition that affects the development of the limbs, spine, and internal organs. People with this condition may have underdevelopment or absence of the fingers and toes, abnormalities in the spine known as hemivertebrae, and issues with the urogenital tract and intestines. This syndrome was described in only a few patients, and its features include malformations that occur from birth. Because the syndrome has been reported in only three patients and last detailed in the literature in 1991, there is limited information available. Understanding of the range of symptoms and variations in how the disease affects people remains very limited.

The most common features observed in this syndrome include limb malformations such as underdeveloped or missing phalanges in the hands and feet, spinal abnormalities like hemivertebrae, and malformations of the urogenital and intestinal systems. These symptoms show the congenital nature of the condition, as they are present from birth.

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome is a congenital condition, meaning the problems with limb, spine, and organ development are present from birth. There is no specific genetic cause identified, and known genes have not been associated with this syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.