What are the physical symptoms of dwarfism?

Some of the physical symptoms and conditions of people with dwarfism include: a large head, abnormal bone alignment, and being incredibly short. Most little people have an average sized trunk, with shortened limbs. Many dwarfs will also have delayed sexual development, and can have slightly impaired intelligence. Also many little people have joint damage and suffer from scoliosis, causing them great pain. Restricted lung growth also is present in little people, and can lead to other life threatening problems, and difficulties.

How is Dwarfism diagnosed?

Dwarfism can be diagnosed mainly by the visible nature of the person's condition. Dwarfism is usually diagnosed in childhood. There is, however, a physical examination that can be given to a person believed to have dwarfism.There can be genetic testing and x-ray's taken of some one's bones to see if they have even a slight case of dwarfism. Many people are referred to a genetic counselor after they are tested or diagnosed.

What are the chances of a person with this disease passing the disease to their offspring?

There is a great chance that the genetic mutation will be passed on, because it is a dominant mutation. In fact many children do contract this disease because it is prevalent in their family pedigree. In a popular reality T.V. show, on TLC, a family with dwarfism is recorded taking part in their day to day lives. The show called, Little People, Big World, is growing in popularity and is quite interesting. Both of the parents in the family have dwarfism, all though this disease is dominant, only one of the couples 4 children have dwarfism.

How prevalent is Dwarfism?

There are over 200 types of dwarfism in today's society, including: achondroplasia, diastrophic dysplasia, spondyloepiphyseal dysplasia, and hypochondroplasia. Achondroplasia is the main kind, prevalent in over 70 percent of dwarfism cases. In America about 1 in 20,000 people contract the disease, dwarfism. Many cases are passed down, and are just involved with families that are all connected to each other. Because dwarfism is dominant in families many people contract it.

What are possible genotypes? Abnormalities?

Some of the possible genotypes for the parents of a child with dwarfism is a RR mother, and a RR father, then 100 percent of their children will have dwarfism. If a both of the parents are Rr then 75 percent of their children will have dwarfism. If one parent is RR and the other parent if Rr then all of their children will have dwarfism. Also if the mom is Rr and then dad is rr then at least 50 percent of of their children will have dwarfism. The abnormality of dwarfism is a faulty allele, a mutation in the growth factor in gene 3. The mutation is also called FGFR3.

How does a person inherit Dwarfism? Dominant or Recessive? Genetic or Chromosomal?

Dwarfism is a inherited mainly by a mutation in the fibroblast growth factor receptor in gene 3, this mutation inhibits bone growth. Considering the fact that most people do not have the disease, dwarfism, would be recessive in families with no history of dwarfism.
But dwarfism is very commonly passed down, from parents to their children. In this genetic case dwarfism is an autosomal dominant disorder, caused by a faulty allele in a person genes. Being autosomal means that both males, and females can contract the mutation and contract the disease. Dominant is saying that in families with dwarfism in it's pedigree, in family history, it is more common that the offspring of the parents will have dwarfism.

What is a Genetic Counselor?

Genetic Counselors are required to have a Master's Degree in Clinical Training.
There are multiple specific jobs genetic counselors do including: research, clinical work, commercial work, teaching(education), public polices, and working in diagnostic laboratories. In general Genetic Counselors work with a health care team, and with specific families. Genetic Counselors provide counseling for families with genetic disorders, or people and especially children with the risk of contracting a genetic disorder.