absent radius-anogenital anomalies syndrome

Absent radius-anogenital anomalies syndrome is a rare genetic condition that affects the development of the limbs and the formation of the anogenital region. People with this condition typically have problems with the radius bone in both arms, leading to absent or shortened forearms. In addition to these limb differences, anomalies in the anogenital area, such as hypospadias in males or imperforate anus, have been noted. Other features that have been reported in the limited literature include hydrocephalus (an accumulation of fluid in the brain) and the absence of the preaxial digits. Since the condition was originally described in 1993, there have been no further detailed studies or additional descriptions published. This makes the overall understanding of the condition less comprehensive than for many other genetic syndromes.

Common signs observed in people with absent radius-anogenital anomalies syndrome include bilateral radial aplasia or hypoplasia, which leads to absent or shortened forearms. In addition, individuals may have anogenital abnormalities such as hypospadias (where the opening of the urethra is on the underside of the penis) or imperforate anus (an abnormality in the formation of the anus). Some features like hydrocephalus and the absence of preaxial digits have also been reported.

Absent radius-anogenital anomalies syndrome is described as a rare genetic condition. It is characterized by limb reduction defects and anogenital abnormalities. While the condition is considered genetic, no specific genes have been confirmed to be involved. As a result, the underlying cause is understood to be genetic, but further details on risk factors or inheritance patterns are currently limited.

Information about treatment options and management approaches is currently limited for this condition.

Information about the outlook and quality of life for people with this condition is currently limited.

Since there have been no further descriptions or studies published on this syndrome since 1993, current research and future directions are not well established.