ACHONDROPLASIA DWARFISM

Jordan Harris Anatomy and Physiology I TTH 11am Dr. Jalowayski Word Count: 2120

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Abstract
Achondroplasia is a type of dwarfism caused by a genetic anomaly. Most cases, almost 80%, occur spontaneously. However, this gene is dominant and can be passed on by a parent with the disorder. The mutated gene causes defects in the embryo’s cartilage that leads to bone deformities. Achondroplasia is characterized by a normal sized head and torso and shorter than normal limbs. People with this disorder generally do not grow taller than 55 inches tall. Defects in the spinal canal can cause serious problems with paralysis and hydrocephalus. Although these complications can usually be successfully treated, at this time there is no treatment or cure for the achondroplasia itself.

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Achondroplasia Dwarfism

The term dwarfism, although sometimes used to refer specifically to achondroplasia, is actually a broader term that describes short stature in both adults and children (Davidson 2007). Dwarfism in general is defined as adults who are four feet ten inches or less (Carson-Dewitt 2006). Some people with achondroplasia will not even grow past twenty-four inches in height and most are less than fifty-five inches tall (Murphy). Achondroplasia is a type of dwarfism that is characterized by short stature and limbs that are disproportionately short compared to their torso (Davidson 2007). The term achondroplasia can be broken down; the “a” refers to a lack of, “chondro” refers to cartilage, and “plasia” to formation (Murphy 2002). This type of dwarfism is the most commonly occurring type of dwarfism and is part of a group of disorders called Chondodystrophies which are all disorders of the cartilage and therefore ultimately of the bone (Carson-Dewitt 2006). Because the basic cartilage, which is the foundations of all born formation, is defective in a fetus that has this condition the results are stunted bone formation (Murphy 2002). Achondroplasia occurs in approximately one in ten thousand live births (Carson-Dewitt 2006). This form of dwarfism occurs among all races and equally between men and women (Murphy 2002).

CAUSES Achondroplasia is caused by a genetic defect that is a dominant trait, meaning that anyone who receives the gene for this disorder will show all the symptoms of

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achondroplastic dwarfism (Carson-Dewitt 2006). There are many things that can cause the genetic abnormality that leads to achondroplasia. If one parent suffers from achondroplasia they have a 50% chance of passing that gene onto their child (Davidson 2007). If both parents carry the gene they have a 25% chance of conceiving a child with double dominant syndrome. They also have a 25% chance of having a child of normal stature and a 50% chance of having a child with achondroplasia (Murphy 2002). Fetuses with double dominant syndrome who received the mutated gene from both parents usually die at or shortly after birth (Murphy 2002). The mutation that causes achondroplasia has recently been identified and it is believed that it results from a small mutation in the gene that contains the instructions for fibroblast growth factor receptor 3 also called FGFR3 (Travis 1995). FGFR3 controls the production of proteins needed for skeletal development in the embryo (Travis 1995). This gene lies on one end of chromosome 4 and it appears that a change in one single amino acid is responsible for this disorder (Murphy 2002). The mutation replaces a glycine amino acid with an arginine amino acid (Young 1998). The National Center for Human Genome Research in Bethesda, MD has done research that shows that this nucleotide’s mutation rate is the highest they have ever calculated (Travis 1995). They have not determined why this particular mutation occurs so often. Another type of dwarfism, hypochondroplasia, also occurs from a mutation on the FGFR3 gene, but it is of a different nucleotide (Travis 1995). Because researchers have isolated the gene that causes achondroplasia doctors can now offer pre-natal genetic counseling; this is especially important to parents who both have achondroplasia to find out if they have passed two copies of the mutated FGFR3

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gene to their fetus (Travis 1995). As children with this abnormality rarely live beyond a few months this genetic testing allows parents to choose early termination of the pregnancy if they find out their child has double dominant syndrome (Murphy 2002). However, offering this genetic testing does raise some ethical questions as members of the Little People of America (LPA), an organization founded in 1957 to provide peer support and education, worry that these screening techniques will be used to terminate pregnancies with even a single copy of the defective FGFR3 gene (Murphy 2002). Although some cases of achondroplasia come from inheriting a gene from a parent, approximately 80% of the instances of this type of dwarfism occur from spontaneous mutations (Young 1998). Generally there appears to be a positive correlation between advanced paternal age and this genetic mutation (Young 1998). This is different in that many genetic defects are often linked to increased age of the mother instead of the father (Carson-Dewitt 2006).

ANATOMICAL SYMPTOMS Achondroplasia can often be diagnosed at birth, as even in the newborn it is possible to see the difference in proportion and size from a typical newborn. Often times even at birth the head and trunk will be normally sized but the limbs will be subtly disproportionate in size (Murphy 2002). The limbs are shorter than normal and the bones are abnormally thicker (Carson-Dewitt 2006). The skull bone is not affected, but the foramen magnum through which the spinal cord passes is often narrower than normal and the spinal canal also becomes abnormally narrow down the length of the spine (Carson-Dewitt 2006). Facial abnormalities may also occur and are characterized by a

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protruding jaw and prominent forehead (Murphy 2002). They also often have a nose with a scooped out appearance called saddle nose and a swayed back caused by a curvature of the spine (Carson-Dewitt 2006). The fibula bones of the lower leg are overly long causing a bowlegged or otherwise deformed stance and there are also sometimes deformities in the bones of the hands (Davidson 2007). The bones of the lower leg often times require bracing to correct bowleggedness, a condition called “windswept” when both legs bend in the same direction, or knock-knees (Murphy 2002). They do however have greater than normal muscular strength (Davidson 2007).

PHYSIOLOGICAL SYMTPOMS Achondroplasia dwarfism has long been thought to be a relatively benign form of genetic disorder that was characterized by normal intelligence, and a reasonable level of health (Young 1998). However, this view does not acknowledge the sometimes serious medical problems, as well as functional problems, that often accompany this type of dwarfism (Murphy 2002). There are many secondary medical issues arising from their skeletal abnormalities (Murphy 2002). Overall people with achondroplasia have a mortality rate more than double that of the general population (Young 1998). Issues with the bones of the ear cause otis media, or ear infections, in over ninety percent of children with achondroplasia by age two. If not promptly treated these ear problems can lead to hearing loss. Approximately 38% of adults with achondroplasia report hearing loss due to ear infections and speech development delay in 20% of children (Young 1998). Sleep apnea is often a common problem arising from abnormalities of certain internal bony structures involved in breathing (Murphy 2002).

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Neurological complications can arise due to the narrowing of the foramen magnum pressing on the cervical cord and causing compression. This can cause sleep apnea and central apnea, hydrocephalus, which is a build up of cerebral spinal fluid, and paraparesis, which is weakness in the lower limbs (Young 1998). In severe cases surgical decompression can help alleviate the cervical cord compression (Young 1998). In a

survey of 437 adult members of the Little People of America in response to questions about problems caused by their achondroplasia: 43% reported sciatica or chronic back pain, 21% experienced limitations due to paralysis, 35% arthritis, 40% chronic allergies and sinusitis, 34% hearing problems, 30% sleep problems and 30% other chronic medical problems directly related to their dwarfism (Goldberg 1996). This disorder does not affect reproductive capabilities or intelligence (Carson-Dewitt 2006).

TREATMENT At this time there is no treatment for the underlying genetic anomalies that cause achondroplasia, however there are some treatments for the anatomical and physiological symptoms that can accompany this disorder (Carson-Dewitt 2006). One treatment that aims to partially correct the most obvious symptom of achondroplasia, short stature, is the controversial limb lengthening surgery (LLS). This surgery was first attempted in Russia in the 1950’s (Murphy 2002). The ultimate goal of this surgery is to add 12-14 inches of height. In order to achieve this effect the bones of the lower leg are surgically broken and wires attached to an external apparatus, which hold the bone in place. Screws are turned on this external apparatus gradually moving the bone apart and forcing the bone to grow longer as the body heals the gaps (Murphy 2002). Often times this

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procedure is then repeated on the arms after the upper and lower bones of the leg are lengthened. The whole process takes approximately three years and requires extensive physical therapy and causes quite a bit of discomfort; patients undergoing this process often have trouble sleeping at night (Murphy 2002). Complications can arise from these surgeries including serious infections (Murphy 2002). Although there is not much information of the long-term benefits and effects of this surgery, it is often recommended by doctors (Goldberg 1996). Another treatment is the use of growth hormone to try and increase the overall stature of the patient, but ultimately it appears it only speeds up the growth process but doesn’t change the person’s overall height, even if administered under the age of one (Murphy 2002). The most effective treatment is a coordinated and multidisciplinary assessment at all ages of development to monitor and try to prevent the neurological and respiratory complications that can arise (Young 1998). Because of the particular higher rate of mortality in children with achondroplasia the Committee on Genetics of the American Academy of Pediatrics has published guidelines on health supervision form birth to adulthood. These guidelines recommend assessment by an experienced pediatrician every 2-3 months for the first 5 years of life and annually thereafter (Young 1998). Although a laudable goal, not every family with a child who has achondroplasia will have access that often to a pediatrician with that type of experience in the specialized fields of pediatric neurology, respiratory medicine and orthopedics (Young 1998). While there are obviously serious complications caused by achondroplasia luckily there are no mental complications; so despite the physical and environmental limitations, many people suffering from this disorder lead full and rewarding lives. Due to

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organizations like the Little People of America association, and the emergence of reality programs like Little People, Big World; the general population of people are learning more about this disorder and realizing that despite their physical challenges people who have this disorder are short in stature, but not necessarily short in anything else.

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REFERENCES Carson-Dewitt, R. (2005) The Gale encyclopedia of medicine. 3rd ed. (Ed. J. Longe). Detroit: Gale. Davidson, T. (2007) The Gale encyclopedia of medicine. Online edition. (Ed. J. Kagan & S. Gall). Detroit: Gale. Goldberg, M. (1996). Functional health status of adults with achondroplasia. Pediatrics. 110, 570. Murphy, W. (2002). Of little people and brittle bones. New York: Lerner Publishing Group. Travis, J. (1995). Dwarfism gene under scrutiny. Science News. 148 (6), 89. Young, I. (1998). Achondroplasia: a case of neglect? Lancet. 19, 1950-1951.

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