When rare birth defects are the topic, the latest name that can be found is “Amelia”. In the older medical terminologies, it is sometimes called phocomelia, however recently, Amelia is used to describe a rare birth defect that includes absence of a limb on the arms or legs. The word “Amelia” can be modified in order to inform the number of limbs absent. For instance, the term called “tetra-amelia” means that four limbs are absent.This malformation usually happens between 24 to 36 days after fertilization.
Amelia is accompanied with other malformation or anomalies in other body parts:
- Malformations of other organ systems
- Cleft lip or palate
- Body wall defects
- Malformation heaf
- Defects on the neural tube
- Defects on the kidneys
- Defects on the diaphragm
- Defects on the lungs
- Defects on the heart
- Defects on the internal and external genitalia
- Mental retardation
- Facial tumors
Amelia is also associated with the following syndromes:
- Baller-Gerold syndrome
- Holt-Oram syndrome
- Trisomy 8 (three copies of chromosome 80
- Teratogenic causes (such as thalidomide)
- Other disease process such as diabetes
- Direct trauma: such as with intented abortion or removal of IUD
- Alcohol ingestion in the first trimester
Signs and Symptoms:
Prior to physical examination, signs and symptoms that may suggest Amelia is manifested in the mother:
- Unusual vaginal bleeding
- Diabetes mellitus
- Toxemia (high blood pressure and increased levels of protein in the urine)
- Ultrasound – during the pregnancy, missing limbs can be outlined using this technology.
- Familial investigation – when genetics has something to do with it.
- Prenatal history – medications that are terratogenic or alcohol ingestion can be the cause of the malformation.
- Proper education about the prevention of taking thalidomide and other medications that may lead to malformation of the limbs.
- Prohibiting alcohol intake during pregnancy.
- Management of the other diseases present during the pregnancy such as high blood pressure and diabetes mellitus
- Children with Amelia can be given assistance in a form of prosthesis or therapies
As a nurse, you must be able to listen to the point of views of the parents about their child. Assist them to cope with the condition as well as tap community resources and support groups so that they can easily know the ways of taking good care of their child. Remind them that the child needs their love as parents and acceptance to the family.