Verloove Vanhorick-Brubakk syndrome

Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies syndrome that affects many parts of the body. It is characterized by several skeletal malformations, including short bones in the arms and legs, absence of certain hand and foot bones, and issues with the spine. People with this condition also show facial malformations such as a bilateral cleft lip and palate, a small lower jaw, and small, low-set ears. These features are combined with major heart defects like truncus arteriosus, which is a congenital heart disease, as well as lung and urogenital malformations including horseshoe kidney and undescended testes.

People with this condition have many physical differences noticeable at birth. These include abnormalities in the bones of the limbs, spine deformities, a cleft lip and palate, small lower jaw, and unusual appearance of the ears. In addition, there are severe heart defects and issues with lung and kidney formation. These signs and symptoms all contribute to the overall clinical picture of this rare syndrome.

Information about the causes of Verloove Vanhorick-Brubakk syndrome is currently limited for this condition.

Information about treatment is currently limited for this condition.

The syndrome is noted to be lethal in the neonatal period. This means that the severity of the congenital anomalies usually results in a very poor outlook, with most affected neonates not surviving beyond the first days after birth.

Information about current research is currently limited for this condition. There have been no new descriptions or reports in the literature since 1981, and further studies are needed to better understand the syndrome.