Category: 3. Congenital Abnormalities and Genetic Disorders

What Is Dwarfism? Dwarfism is when a person is short in stature because of their genes or a medical reason. It’s defined by the advocacy groups Little People of the World Organization (LPOTW) and Little People of America (LPA) as an adult height of 4 feet 10 inches or under, as a result of a…

Cleft lip and cleft palate are facial and oral malformations that occur very early in pregnancy, while the baby is developing inside the mother. Clefting results when there is not enough tissue in the mouth or lip area, and the tissue that is available does not join together properly. A cleft lip is a physical split or separation of…

What Is Progeria? Progeria is also known as Hutchinson-Gilford progeria syndrome (HGPS) or the “Benjamin Button” disease (named after the short story and movie ‘The Curious Case of Benjamin Button’). It’s  a rare genetic condition that results in  a child’s body aging rapidly. A mutation in the LMNA gene causes progeria. Most kids with progeria don’t…

Brittle bone disease is a lifelong genetic disorder that causes your bones to break very easily, usually without any type of injury, as from a fall. Your doctor may also call it osteogenesis imperfecta. It affects both sexes and all races equally. There is no cure for brittle bone disease, but your doctor can treat…

Pfeiffer syndrome is a rare birth defect that affects the shape of a baby’s skull and face. When you’re born, the top of your skull isn’t one solid piece. It’s actually made up of several bones with special joints between them. This allows it to expand so your brain has room to grow. Normally, the skull bones come together…

Apert syndrome is a rare genetic disorder that causes abnormal development of the skull. Babies with Apert syndrome are born with a distorted shape of the head and face. Many children with Apert syndrome also have other birth defects. Apert syndrome has no cure, but surgery can help correct some of the problems that result. Causes…