Cornelia de Lange syndrome is a genetic condition that can result in extreme developmental abnormalities. The intellectual and physical development of a child with Cornelia de Lange syndrome is generally affected. The condition is congenital, i.e. it is present from birth. Cornelia de Lange syndrome is also known as Amsterdam dwarfism or Bachmann-de Lange syndrome.… Continue reading Cornelia de Lange syndrome
Category: Syndromes
Treacher Collins Syndrome
Treacher-Collins syndrome is an autosomal dominant condition that is present from birth and affects the growth of bones and other facial tissues. Treacher Collins syndrome is a very rare disorder and tends to affect about 1 in every 50,000 individuals. It is usually runs in families and is passed on from one generation to another.… Continue reading Treacher Collins Syndrome
Waardenburg Syndrome
Waardenburg Syndrome is a genetic disorder that is characterized by deafness in the affected individuals and the presence of pale hair, skin and eye color. It generally tends to run in families and may be passed on from one generation to another. Waardenburg Syndrome is thought to account for nearly 2 to 3 percent of… Continue reading Waardenburg Syndrome
Turner Syndrome
Turner syndrome is a disorder that is caused due to the presence of partial or missing sex chromosomes. It tends to affect only women and girls. Turner syndrome can lead to a number of developmental and medical difficulties such as failure to start puberty, cardiac abnormalities, short stature, some learning deficiencies and infertility. Turner syndrome… Continue reading Turner Syndrome