Polydactyly

Polydactyly is a common birth defect. The deformity is characterized by extra fingers or toes. Also called extra digits or supernumerary (meaning more than normal) digits, polydactyly results in extra digits that are typically just small bits of extra skin and tissue with no bones present. In some cases, however, there is bone structure within the digits making them partially or fully functional. According to Paul Arnold, polydactyly is caused by the mutation of a gene on chromosome 7. There are multiple mutations that can occur to a gene that is on the short arm of this chromosome resulting in extra digits on various parts of the feet or hands. This gene is the GLI3. This gene takes part in creating the patterns of organs and tissues while…

The name of our skeletal disorder/ disease that we chose is called Polydactyly. Also known as hyperdactyly and polydactylism, Polydactyly is a medial term used to describe the unusual condition of extra fingers and extra toes. Polydactyly is a deformity in which the hand has one or more extra fingers in any of three places of the hand: • On the small finger side—most common (ulnar) • On the thumb side, also called thumb duplication—less common (radial) • In the middle of the hand—least…

this disorder. Situs inversus is an extremely rare genetic condition where the organs in the chest and the abdomen are positioned on the opposite side of where they are supposed to be. This condition results in a mirror image of a normal body. It affects about 1 in 10,000 people. The cause of situs inversus is a autosomal recessive genetic condition. Also there is two main types of this condition which are, dextrocardia and levocardia. The rarest kind is levocardia, where the heart is on the…

Meckel-Gruber Syndrome Meckel-Gruber Syndrome is a Fatal congenital autosomal recessive disease which is named after the German anatomist Johann Friedrich Meckel and the German physician Georg Gruber. This illness infects 1 in 13,250 to 1 in 140,000 people around the world; however, it’s more common in some regions. For instance, it was reported that Meckel syndrome has an incidence of 1 per 3,500 live births with a carrier rate of 1 in 30 in Bedouins in Kuwait (Teebi et al.1992). This…

For my paper I chose to write about Ellis-Van Creveld syndrome. This disorder is a gentic disorder that is very rare. In many parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000. It is characterized by additional fingers and/or toes (also known as polydactyly), abnormal development of fingernails, short limb dwarfism, and over half the cases have shown congenital heart defects. Ellis-Van Creveld syndrome is associated with abnormalities or mutations in two genes on…

Each year about four million babies are born around the world. Out of four million only three percent will be born with a genetic disorder and around one percent of the babies will be born with chromosomal abnormality. The reactions to these disorders vary from stares to happiness, resulting in the child feeling different or abnormal but it should not be a thing to frown upon. Ectodermal dysplasia is a group of syndromes that involve defects in the skin,hair, and nails. There are about more…

Congenital malformations is a physical defect present at birth, irrespective of whether the defect is caused by a genetic factor or by events existing before or at birth. In a malformation, the development of a structure is arrested, delayed or misdirected early in embryonic life and the effect is permanent. 1 For centuries, skeletal deformities have fascinated many civilizations. For example, the Egyptian God path was depicted as a short limbed dwarf and metabolic bone disorders were recognised…

addition, it has discovered that there is more than one gene can cause the disease and which genes on chromosome 8, 11 and 17. And it is a rare disease and the different incidence of this disease around the world at a rate of 1 to 1 13,000 140,000 births, the researchers found that the prevalence of the disease varies from site to site as frequently in some areas more than others. (MGS) cause birth defects and sporadic, especially in the brain, kidneys, eyes and Parties. For example,…

GENITO-URINARY: In female newborns non-purulent discharge is normal. Note any abnormal findings. In male newborns the scrotum should be descended. Make not of scrotal swelling, and check for signs of infection on male newborns that have had a circumcision. Meconium should be passed within first day of birth. MUSCULOSKELETAL: Examine the hands and feet for symmetric movements. The hands and feet should also be examined for abnormalities such polydactyly, syndactyly, club foot, and other…

issues and bacterial infections in the lungs. The buildup of thick mucus causes permanent lung damage. This condition also affects the digestive system and even the reproductive system. Smith-Lemli-Opitz syndrome is a condition characterized by developmental delays and is a result of mutations in the DHCR7 gene that is involved with the body’s production of cholesterol. Individuals affected by this condition have symptoms such as microcephaly, mental disabilities, and behavioral issues.…