Aase Syndrome
A very rare genetic disorder
This disease characterised by the following congenital malformations:
- hydrocephalus (due to Dandy-Walker anomaly)
- cleft palate
- severe joint contractures
Synonyms
- Aase-Smith I syndrome
- Hydrocephalus-cleft palate-joint contractures syndrome
Incidence
How common is Aase Syndrome
<1/1000000
Less than 20 cases have been reported in the literature
Inheritance
Autosomal dominant
Age of Onset
- Neonatal
- Antenatal
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
- Scoliosis
- Trismus
Common Symptoms
- Aplasia/Hypoplasia of the radius
- Talipes equinovarus
Occasional Symptoms
- Neoplasm
- Slender finger
- Strabismus
How this condition is diagnosed?
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.
How is this condition is treated?
In the absence of a specific treatment, supportive care and surgical correction should be offered.
