A very rare genetic disorder
This disease characterised by the following congenital malformations:
- hydrocephalus (due to Dandy-Walker anomaly)
- cleft palate
- severe joint contractures
- Aase-Smith I syndrome
- Hydrocephalus-cleft palate-joint contractures syndrome
How common is Aase Syndrome
Less than 20 cases have been reported in the literature
Age of Onset
What causes this condition?
The aetiology remains unknown.
There are currently no human genes associated with this disease.
What are the Symptoms of Aase Syndrome
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.
Very Common Symptoms
- Abnormality of the hip bone
- Abnormality of the pinna
- Camptodactyly of finger
- Cleft palate
- Dandy-Walker malformation
- Joint stiffness
- Multiple joint contractures
- Aplasia/Hypoplasia of the radius
- Talipes equinovarus
- Slender finger
How this condition is diagnosed?
The features of the hand are especially important for the 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.
How is this condition is treated?
In the absence of a specific treatment, supportive care and surgical correction should be offered.