Causes and risk factors
The syndrome is caused by mutations in the FGD1 gene (fasciogenital dysplasia type 1), which corresponds to Xp11.21.
Male subjects 1-9 / 100000.
Which are the symptoms?
- Facial features (wedge-shaped hair growth on the forehead, hypertelorism, upturned nose and curved grooves under the lower lip, downward and outward sloping eyelids, hypoplasia of the upper jaw, domed ears, ptosis).
- Small, squat arms and legs.
- Interdigital pterygium and clinodactyly.
- Shawl-shaped scrotum.
- Hyperextension of the proximal interphalangeal joints and flexion of the distal joints.
- Low growth
- Mental delay
How is it treated?
There is no specific therapy for this syndrome, but it is based on the treatment of individual symptoms.
Where do we treat it?
Within the San Donato Group, you can find Aarskog syndrome specialists at these departments: