Aase-Smith Syndrome

A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.

Epidemiology

Less than 20 cases have been reported in the literature.

Clinical description

The fingers are thin with absent knuckles and reduced creases over the joints, and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot.

Etiology

The aetiology remains unknown. There are currently no human genes associated with this disease.

Diagnostic methods

The features of the hand are especially important for the diagnosis.

Differential diagnosis

Clinical overlap between Aase-Smith syndrome I and Gordon syndrome (see this term) has been suggested, due to the presence of distal arthrogryposis and cleft palate in both syndromes.

Genetic counseling

Autosomal dominant inheritance is suggested.

Management and treatment

In the absence of a specific treatment, supportive care and surgical correction should be offered.