Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs.
How is SEDc diagnosed?
SEDc may also be diagnosed at birth. The diagnosis is made based by looking at the child’s growth, physical features, X-rays, and testing for the gene change.
What causes SEDc?
SEDc is caused by a mutation in COL2A1 (type II collagen alpha 1 chain) on chromosome 12. The mutation affects the collagen and connective tissues in the bones, eyes and other parts of the body. Most cases of SEDc result from new mutations of this gene and occur in families with no history of the disorder.
What does Pseudoachondroplasia mean?
Pseudoachondroplasia is a common type of skeletal dysplasia usually recognized in a patient between the ages of 2 and 4 years old. It is a genetic disorder passed on as a recessive disorder (meaning by both parents) and involves the overproduction of cartilage oligomeric matrix protein.
How common is Pseudoachondroplasia?
Pseudoachondroplasia is a rare, inherited disorder that affects bone growth. It affects one in 30,000 people. The condition is also referred to as pseudoachondroplastic dysplasia or pseudoachondroplastic spondyloepiphyseal dysplasia. It is a form of dwarfism.
How is Spondyloepiphyseal dysplasia inherited?
Spondyloepiphyseal dysplasia congenita can be inherited with an autosomal dominant gene, which means one parent passes the gene to the child. But many patients acquire the disease because of a new mutation, or a new change in a gene.
What is bone dysplasia?
Skeletal dysplasia is a category of rare genetic disorders that cause abnormal development of a baby’s bones, joints, and cartilage. While skeletal dysplasia affects different parts of the body in different children, the areas most often affected include the legs and arms, ribcage, skull, and spine.
What is short arm syndrome?
Hypochrondroplasia is a genetic disorder characterized by small stature and disproportionately short arms, legs, hands, and feet (short-limbed dwarfism). Short stature often is not recognized until early to mid childhood or, in some cases, as late as adulthood.
What is the rarest form of dwarfism?
A rare form of dwarfism, diastrophic dysplasia occurs in about one in 100,000 births. People who have it tend to have shortened forearms and calves (this is known as mesomelic shortening).
What’s the difference between achondroplasia and Pseudoachondroplasia?
Achondroplasia, the single most common form of human dwarfism, results in most cases from one of two very specific mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3). Pseudoachondroplasia is caused by a variety of mutations in the gene encoding cartilage oligomeric matrix protein (COMP).
What is the life expectancy of someone with dwarfism?
As well as being short, some people with restricted growth also have other physical problems, such as bowed legs or an unusually curved spine. But most people don’t have any other serious problems and are able to live a relatively normal life, with a normal life expectancy.
Can you tell if a baby is born with dwarfism?
Doctors sometimes suspect achondroplasia before birth if an ultrasound late in a pregnancy shows that a baby’s arms and legs are shorter than average and the head is larger. But many children with achondroplasia aren’t diagnosed until after birth.
What famous person has achondroplasia?
Dinklage is an Emmy-winning American actor with achondroplasia. He has starred in The Station Agent, Game of Thrones and X-Men: Days of Future Past.
What are the three types of dwarfism?
The three most common types of skeletal dysplasias are achondroplasia, spondyloepiphyseal dysplasia congenita, and diastrophic dysplasia.
How long do people with diastrophic dysplasia live?
There is no cure for diastrophic dysplasia, but the symptoms are typically only physical. Most people with diastrophic dysplasia have average intelligence and a normal life expectancy and can expect to lead productive lives.
How tall are people with diastrophic dysplasia?
This, in turn, affects bone growth and height. The average height of people with diastrophic dysplasia is 50 to 53 inches. The taller the patient, the less severely he or she is affected.
What is the pattern of inheritance for dwarfism?
Inheritance. Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene.
What is Kniest syndrome?
Kniest syndrome is a genetic disorder stemming from a type 2 collagen defect (COL2A1) passed on autosomal dominant (one parent passes on the disorder). It affects the cartilage, making it soft and crumbly with a Swiss cheese appearance.
What is Spondyloepiphyseal dysplasia tarda?
Spondyloepiphyseal dysplasia tarda is an X-linked genetic disorder, meaning males are more commonly and severely affected. It appears in childhood (around age 4) or even adulthood, and may be first diagnosed as Perthes disease, which occurs when the blood supply to the rounded head of the thighbone is interrupted.
What is Diastrophic dwarfism?
Diastrophic dysplasia is a disorder of cartilage and bone development that leads to an onset of joint pain and deformity. It is a rare genetic condition that causes dwarfism, where a child’s legs and arms do not grow and develop to the typical adult length.
What does dysplasia mean in medical terms?
(dis-PLAY-zhuh) A term used to describe the presence of abnormal cells within a tissue or organ. Dysplasia is not cancer, but it may sometimes become cancer.