This condition is also known as hand, foot and genital syndrome resulting in the anomalies of the development of the hand, feet, urinary tract along with the reproductive system. This is a very rare syndrome with only a few cases reported globally. The gene responsible for the regulation of these body parts is normally expressed with the embryonic development. Women with this condition have duplication and early development of uterus while the men have the opening of their urethra on the underside of the penis. The individuals are normally fertile but the pregnant women are at the risk of pregnancy loss and still birth.
Causes
The result of mutation in the HOXA13 gene results in the hand-foot-genital syndrome. This is inherited in an autosomal dominant pattern which means one defect gene from a single parent can develop the disorder. The child born of parents affected with this syndrome has a 50% chance of inheriting the defect gene. However, the prenatal tests could detect the syndrome particularly if its existence has been identified by the affected family. HOXA13 gene is responsible for the production of a protein involved in the development of the bones, urinary tract and reproductive system of the infant in the womb. The defective gene affects the normal development of these structures. Depending on the type of mutation, the gene could either produce the functional HOXA13 protein or the non-functional protein. The altered functional protein may create rigorous symptoms than the non-functional protein.
Symptoms
The symptoms of this syndrome may have varying severity with different effects. Some of the signs and symptoms associated with hand-foot-genital syndrome are abnormally short thumbs, fingers that may curve inwards along with the union or delayed bone rigidness of the wrist and ankles and short feet with big toes. The affected individuals have the problems of the genitals and the urinary tract resulting in recurrent urinary infections. Defects of the ureters and or the urethra may also develop with the inability of these people to control their urine flow in a condition known as urinary incontinence. The male reproductive conditions include the opening of the urethra on the underside of the penis in a condition known as hypospadias. The female reproductive problems include the early development of the uterus and its duplication in the non-functional form.
Diagnosis and Treatment
Generally, the diagnosis may be based on the findings in the radiographs of the hand, feet, kidneys and the reproductive system. The molecular genetic testing should be able to confirm the diagnosis with the detection of the defect gene. There is no specific treatment available for this syndrome. In some occasions, the symptoms can be managed with certain medications. The recurrent urinary and bladder infections can also be managed with medications.
