Achondrogenesis: Abnormalities In The Skeletal System

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

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.

Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a genetic mutation in either the father’s sperm or mother’s egg. (mayo clinic, March 20,2014.) Achondroplasia was the first discovered in ancient Egyptian records. People with achondroplasia were considered people with supernatural powers. Many people call dwarfs midgets but to them, it is very disrespectful because midget literally means little person. Some acceptable names that you can use that will not offend them would be little people, LP, person with short stature, or dwarf. Even though dwarfs feel as if they do not have disabilities, the Americans with Disabilities Act (ADA) will protect the rights of dwarfs. (who discovered it? March

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

Enlarged hands and feet are common feature with acromegaly. People with this disorder often notice that they can no longer put on rings that used to fit and that their shoe size has progressively increased. Gradual changes in the shape of their face, such as a protruding lower jaw and brow, an enlarged nose, thickened lips, and wider spacing between the teeth can also be noted (Z. Killinger, J. Payer, I. Lazúrová et al 2010). Because it tends to progress slowly, early signs may not be readily apparent for several years. Sometimes, people notice the condition only by comparing old photographs. Some of the key signature features of this disorder are deepened husky voice as a result of enlarged vocal cords and sinuses,

The deficiency of growth hormone (growth hormone deficiency, GHD) was limited in the past by clinically only the aspects connected with the multitude of body growth.

Microcephaly is where the head is small in size. There is a downward slant to the eyes. They have a low birth weight and weak muscle tone (hypotonia) in infancy. Patients also may have low-set ears. They may also have micrognathia, or a small jaw (Tyagi, Kumar, Kumar, Singla, and Singh, 2010). Patients may also have a high palate, but rarely have a cleft lip. The corners of their mouth may be downturned and they may have a large nasal bridge. The majority of patients have abnormal dermatoglyphics, which are skin markings or patterns (Rodrígues-Caballero et al., 2010). Their facial features may change over time. Some have a heart defect (Tyagi, Kumar, Kumar, Singla, and Singh, 2010). Patients may have cardiac, skeletal, genitourinary, or immune abnormalities (Rodríguez-Caballero et al., 2010). Their cardiac abnormalities often require surgical correction (Tyagi, Kumar, Kumar, Singla, and Singh, 2010). They have recurrent respiratory infections. Pneumonia is a major cause of neonatal or infantile death (Gu et al., 2013). They have poor growth. They may excessively drool and have constipation. Patients may have partial webbing or fusing of fingers or toes, which is called syndactyly. Some may have a single line in the palm of their hands, which is called a simian crease. Patients may have skin tags in front of their

The first amendment is the most important part of the Constitution because it has been the most exercised right by U.S citizens. First amendment states “Congress shall make no law respecting an establishment of religion, or prohibiting the free exercise thereof; or abridging the freedom of speech, or of the press; or the right of the people peaceably to assemble, and to petition the Government for a redress of grievances.” Meaning, as citizens, the Constitution protects our freedom of religion, speech, press, assembly and petition the government. This amendment is a good reflection of what America represents, equality for all.

This is a genetic disorder caused by a missing piece of chromosome 4. It is a rare disease and only affects about 1:50,000 births. The result of this missing piece on the short arm of chromosome 4 is a wide range of physical and developmental symptoms and impairments. These include microcephaly, slow growth in utero and postpartum, hypotonia, seizures, profound intellectual disability, cryptorchidism, and hypospadias, amongst many others. In addition, the child tends to have distinct facial features---“Greek Helmet Facies”--- including a broad nose, cranial asymmetry, hypertelorism, micrognathia, abnormal upper lips, cleft lip and/or cleft palate, and preauricular tags and/or pits. The list of remaining signs and symptoms is too long to this for the purposes of this assignment so I have listed some of the more common ones, knowing that each child may exhibit a different cluster of symptoms. Initial signs of the disease are found during pre-natal ultrasounds but it can only be confirmed through genetic testing. (Wolf-Hirschorn syndrome, n.d.)

2. Patients with fibular hemimelia usually present at birth with a fibular abnormality, ranging from minimal limb shortening to complete absence of the fibula.

“Arthrogryposis is a condition that causes joints to be stiff and crooked at birth. The individual’s intelligence is relatively normal. The patient will have stiff upper and lower joints, with fixed internal rotation of the shoulders, extension of the elbows, flexion and ulnar deviation of the wrist. The lower extremities will exhibit external rotation of the hips and knee flexion contracture” (Reed, 2011).

Hemifacial hypertrophy is a rare developmental anomaly exhibiting asymmetric growth of one or more body parts. The condition may either be isolated or associated with a variety of multi-dimensional and variably faceted syndromes. [7] Men are more commonly affected; right side more common and whites are more affected than blacks. [4] The condition is usually accentuated with age, especially around puberty. [7]

the normal growth pattern can be one of the first manifestations of a disruption 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.

Pituitary Dwarfism is a disease where the growth of someone is slowed or delayed, usually due to a malfunction in the pituitary gland and it results in a less than normal stature. It takes place in the pituitary gland which regulates the production of hormones and it causes normal stature with short limbs. Since the height and growth is decreased, it results in what many people refer to as a “midget.” The Pituitary gland produces many hormones such as the growth hormone, luteinizing, thyroid, prolactin, follicle-stimulating, and oxytocin. A decrease in the production of hormones in the anterior pituitary is what causes most forms of dwarfism. The decrease occurs during childhood, and it causes the body to be developed proportionately, but at