What is it?
Aarskog-Scott syndrome, or facio-digitalogenital dysplasia, is a rare X-linked disorder associated with facial features, finger features, and a shawl-like scrotum. These cases are diagnosed based on short stature or mental retardation. Height is initially less than the third percentile, but usually the defect is restored during puberty. One study demonstrated the beneficial effects of growth hormone (GH) treatment on growth and overall growth in adulthood. In about 30% of cases, mental retardation, usually mild, may occur. Patients' social integration and quality of life are satisfactory. Sexual development is normal but may be delayed; fertility has been reported. Facial marks become less noticeable with age. There is a fair amount of variability within the family. The mutation is also thought to be the cause of isolated mental retardation in the absence of other clinical signs of Aarskog-Scott syndrome. Familial cases have been described that cause an autosomal inheritance pattern.
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?
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