EN1-related dorsoventral syndrome

EN1-related dorsoventral syndrome is a rare genetic disorder that affects limb development and other body systems. It is characterized by a type of dysplasia where there is significant shortening of the lower limbs and abnormalities in hand and foot development, including fused fingers or toes (cutaneous syndactyly) and nail problems. The condition is linked to mutations in the EN1 gene. In addition to limb differences, some people with this condition also show differences in the genitourinary system, as well as issues with muscle tone and neurological functions, such as spasticity and seizures.

People with this condition often have marked shortening of the lower limbs, fused digits, and abnormal nail formation on their hands and feet. Other described signs include genitourinary abnormalities such as bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, and hypoplastic labia majora. Some individuals may also experience spasticity and seizures.

EN1-related dorsoventral syndrome is caused by mutations in the EN1 gene. These genetic changes affect the normal development of limbs and other body systems during early development.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.