Angelman syndrome is a genetic condition that is characterized by the presence of neurological disorders and problems of developmental disabilities. Problems in speaking, body balancing, walking, and in few cases seizures are caused due to Angelman syndrome. Lavish smiles and laughter outbursts are common signs of this syndrome. Most patients have a happy nature along… Continue reading Angelman Syndrome
Category: Syndromes
Crouzon syndrome
Crouzon syndrome is a congenital genetic disorder characterized by an anomalous fusion or bonding between the bones of the face and the skull. In normal cases, during the development of the brain, open sutures occurring between the bones permit the normal growth of the skull. However, when the bone sutures close earlier than normal, then… Continue reading Crouzon syndrome
Morquio Syndrome
Morquio syndrome is also technically called as mucopolysaccharidosis IV. This is a rare hereditary disorder which affects the development of intracatilaginous bone. The condition results in serious deformation of skeleton, especially the long bones and spine as well as causes dwarfing. The disorder is usually detected within the first two years of affected child’s life.… Continue reading Morquio Syndrome
Noonan Syndrome
What is Noonan Syndrome ? Noonan syndrome is a genetic mutation that hinders the normal growth of body parts,causesheart defects, restricts body growth, lowers intelligence, and results in unusual face formation and other physical disorders.During the conception of fetus, Noonan syndrome is caused due to the fetus acquiring a copy of mutated gene from a… Continue reading Noonan Syndrome