General
Achard syndrome is a very rare genetically determined congenital disorder characterized by connective‑tissue dysfunction. As a result, deformities of various body parts occur, and there is an increased likelihood of joint dislocation. Achard syndrome is an autosomal dominant disorder, and the probability of transmission from an affected parent to a child is 75%.
Symptoms
The connective‑tissue disorder manifests in changes in skull shape, which tends to be shortened and broadened (brachycephaly). Also typical for this syndrome is a small jaw (micrognathia). The limbs are elongated and often display long, spider‑like fingers, while the thumbs are short.
The joints of affected individuals are not very stable and tend to dislocate easily.
Some features (especially long limbs and fingers) resemble those seen in individuals with Marfan syndrome. However, unlike Marfan syndrome, cardiovascular abnormalities are not common in Achard syndrome.
Diagnosis
Suspicion may be raised based on the clinical features described above, but reliable diagnosis requires genetic testing, which is essentially the only definitive diagnostic method.
Treatment
No effective treatment is known, as this is a congenital condition. Management is supportive and symptomatic.
- dlhé končatiny
- arachnodaktýlia (dlhé úzke prsty)
- krátke palce
- zmena tvaru lebky (skrátená) - brachycefália
- mikrognathia (malá sánka)
- nestabilné kĺby (tendencia k vykĺbeniu)
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