Aase-Smith syndrome

Aase-Smith syndrome type I is a very rare genetic disorder. People with this condition are born with several congenital malformations, including a buildup of fluid in the brain (hydrocephalus), a cleft palate, and severe joint contractures. Hydrocephalus in this syndrome is linked to a specific brain malformation called the Dandy-Walker anomaly. Cleft palate refers to an opening or split in the roof of the mouth, and joint contractures make movements difficult as the joints are abnormally stiff. Because it is a genetic condition, these changes are present at birth. The syndrome has been recognized as a unique combination of distinct physical features. Medical studies have catalogued these major signs, which help healthcare professionals understand the condition better. However, due to its rarity, detailed information about variability and full clinical spectrum is still limited.

People with Aase-Smith syndrome often show symptoms from birth. The main symptoms include hydrocephalus due to the Dandy-Walker anomaly, which causes extra fluid in the brain, a cleft palate that can affect feeding, and very tight joints that limit movement because of severe contractures.

This syndrome is a genetic condition. It is believed to be caused by gene changes that lead to the congenital malformations seen in the condition. However, the specific gene or genetic changes have not been identified in the available information.

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.