Bloom's syndrome

Bloom's syndrome is a rare autosomal disorder. It is also known as congenital telangiectatic erythema. It is characterized by intense photosensitive nature leading to the hindrance in the growth and development of the fetus This disorder is triggered as a result of genetic mutation which creates a biochemical malfunction in the body by enhancing the superoxide radical anion production. In most cases, Bloom's disorder occurs among exclusive tribes of Jews. The effects of Bloom's syndrome is predominantly on the reproductive system as it decreases the sperm count and also causes premature delivery and provokes the onset of diabetes. Since Bloom's syndrome is related to photosensitivity, the only known form of treatment is through avoiding exposure high intensity light rays.

Clinodactyly

Clinodactyly is derived from the Greek 'klinein' which means to bend, slope or incline and 'dactylos' which is finger, toe. Clinodactyly is a condition describing a bend or curvature of the fifth fingers, the little fingers, toward the adjacent fourth or the ring fingers. It is sometimes called '"fifth finger clinodactyly' to distinguish it from similar curving of other finger or toe. It is a minor congenital isolated anomaly which goes unnoticed most of the times. It can also occur in combination with other abnormalities in many genetic syndromes such as Russell-Silver syndrome or Down Syndrome (trisomy 21) and Klinefelter (XXY) syndrome, Banki syndrome, Blooms syndrome and Feingold syndrome.

Clinodactyly can be identified in prenatal ultrasound. It is statistically correlated with increased risk of chromosome aberration in the fetus. Clinodactyly is also diagnosed by treating physicians after a thorough medical history and careful physical examination. X rays are used to confirm the diagnosis. As such no treatment is required for clinodactyly. Some surgical procedures involve an osteotomy, making a cut in the bone and correcting the deformity, and stabilizing the finger until the bone and soft tissue are healed. Although surgery is usually successful in correcting this condition, there is a always a risk of recurrence and need for future surgery.

The exact incidence of clinodactyly is not known but it is estimated to be present in approximately 10% of the general population. It occurs in 60% of patients with Down Syndrome. If the condition is noted during a prenatal ultrasound, then amniocentesis may be warranted. Interestingly, clinodactyly can be an inherited condition as well, and may be present as a part of an associated syndrome.