Achondroplasia Genetic Disease

Achondroplasia is when cartilage during development is not developed into bone, which results in dwarfism. This condition also characterized by short limbs is initiated by a gain of function mutation in the FGFR3 gene. This mutation is a point mutation. When this mutation occurs, the receptor of the FGF does not need the FGF signal to be activated. This causes the chondrocytes to stop dividing and start differentiating into cartilage prematurely and the bones fail to grow to their proper length, thus resulting in the short limbs that result from this mutation. (textbook) The FGFR3 gene encodes for the Fibroblast growth factor receptor 3 protein. Textbook

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

2-“Achondroplasia.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, www.rarediseases.info.nih.gov/diseases/8173/achondroplasia.

AAT deficiency is caused by a genetic defect (gene mutation). The gene mutation is passed from parent to child (inherited). The disease typically develops only if a person inherits the defective gene from each parent.

CF happens because two parents have a defect in the CF transmembrane conductor regulator (CFTR) gene. If a child has only one parent that has a

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

Affecting only one in every 2 million people Fibrodysplasia ossificans progressiva (FOP) is one of the rarest genetic disorders of congenital skeleton malformations; identified by congenital malformation of the big toe at birth. Flare-ups occur by soft tissue injury followed by immobility. A mutation in the activin receptor IA/activin-like kinase 2 (ACVR1/ALK2), and bone protein (BMP) type I receptor were reported in all cases of FOP, making this a specific disease causing mutations in the human genome (Kaplan, 28 O). However, there is no current cure for FOP there are new developing treatments. The benefit to studying this rare

Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing (prominent forehead) (1, 3, 4, 6-8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments and

Cystic fibrosis occurs as a mutation on Chromosome 7. These mutations causes little to no CFTR (Cystic fibrosis transmembrane conductance regulator) and promotes the removal of 3 bases in DNA resulting in Amino acids to be unaccounted for.

Familial Dysautonmia is a genetic disorder. A genetic disorder is a disorder that is passed down to you from your parents. For example, when both your parents have brown eyes, so do you! Familial Dysautonmia is similar. It disturbs your automatic nervous system, which is what your body does without you controlling it (Digestion, breathing, tear production, blood pressure, taste, pain, heat, cold, and body temperature).

It is caused when an individual inherits a faulty gene, CFTR, from each parent ("What Is Cystic Fibrosis?," 2013). It is the most common lethal genetic disease that affects white children, impacting more than 30,000 children and young adults in the United States (Kowalczyk, 2014, p. 75), (Jr., 2014).

Cystic Fibrosis an inherited genetic disorder. This disorder is present when a child has 2 abnormal copies of the CFTR gene. There is a defect or a mutation in this gene that changes the protein which regulates the movement of salt in and out of cells. A mutation or defect is an alteration. This means that there is a change in the CFTR gene which causes it to perform improperly.

scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of

Achondroplasia is a genetic disorder that results in a form of dwarfism. Individuals who developed this disorder are characterized by a usually normal torso and shortened limbs. Furthermore, achondroplasia is ordinarily inherited as an autosomal dominant trait, which means that only one parent passes on a copy of the defective gene on a chromosome other than a sex chromosome. However, the majority of cases of achondroplasia are due to a new spontaneous gene mutation.

Evidence: According to Mayo Clinic, about 80% of people born with Achondroplasia have normal heighted parents.