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.