Harlequin Syndrome Research Paper

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

The type of Progeria Sam had is called Hutchinson-Gilford Progeria Syndrome, “child Progeria” rather than Werner’s syndrome, also know as “adult Progeria”, that does not occur until late teens, resulting in longer lives into the 40’s-50’s (“Progeria 101/FAQ"). Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. Throughout early infancy, children with Progeria resemble normal infants’ physical appearance. Around age 1 or 2 they begin to display extreme growth delay causing them to be short, and have low weight. Their faces appear to be small compared to their head size; furthermore, their faces seem shrunken, wrinkled, and slender. Skulls will have visible veins along the forehead, nose-bridge, as well as the other areas across the head. Other symptoms include having a small jaw, delayed or failed tooth development, deformity of teeth with crowding, beaked nose, prominent eyes, brittle nails, dislocated hips, skeletal defects, and loss of hair, eyebrows, and eyelashes (Chandravanshi et al.). More damaging symptoms are atherosclerosis (hardening of the arteries), cardiovascular issues (strokes heart attacks), arthritis, and osteoporosis (“Progeria 101/FAQ"). The children who have Progeria are very similar in appearance with little effects from various ethnicities (“Progeria 101/FAQ"). Normally the complications of atherosclerosis lead to the deaths of the children around

Hutchinson-Gilford Progeria Syndrome (HGPS) affects approximately 1 in 4-8 million newborns. It is characterized by rapid aging, but no symptoms are seen at birth. Within a year, infected children start showing symptoms such as a receding jaw, pointy nose, partial to total hair loss (alopecia), fat loss, bone disfigurements, a short stature and skin problems (Pollex 2004). The disease progresses with time, and eventually leads to death at an average age of about 13 years. Death is usually caused by some form of cardiovascular disease, usually induced by atherosclerosis (Wuyts et al. 2005). Most cases of HGPS are due to de novo autosomal dominant point mutations in the lamin A/C gene (LMNA). There are some reported cases suggesting autosomal recessive inheritance, but further testing needs to be performed.

What is Harlequin Ichthyosis? It is a rare severe genetic disorder that affects the skin. You’re usually born with this disorder; causing hard, very thick skin covering most of their bodies. The skin forms large, diamond shaped plates that are separated by deep cracks. This disorder is an autosomal recessive gene pattern. This means both copies of the gene in each cell have mutations. Both parents of an Infant with this disorder each carry one copy of the mutated gene. The parents typically do not show any signs or symptoms of the disorder. What could cause something like this to happen? Back in 2005, Scientist did a study that was traced to a mutation in the ABCA12 gene. This is believed to encode a transporter protein involved in the transport of fats across cell membranes. Some symptoms

Progeria is the World’s leading cause of children death because, Progeria is a fast-paced disease the disease has many symptoms and signs, and the treatments are very minimal. This disease is the saddest disease i have seen or heard of in years.

And this disorder affects the skin, hair and nails. This happened because the layer that is in charge of these things when the fetus was being created failed to develop. Malanie Gaydos, who is a model, has this genetic information she lacks hair, teeth, nails and her skin is very sensitive. She has learned to embrace this disorder and is now living her

The Parry Romberg syndrome is unusual disorder that slowly deteriorates the skin and soften facial tissues around the frontal face; however, this usually occurs on the left side. Doctors are uncertain if it’s an autoimmune mechanism that initiates this unique disease. The Parry Romberg syndrome may be a variation of a skin disease called morphoea. The beginning stages of this facial deterioration usually encompass the tissues above the upper jaw or between the nose area and progresses to the direction of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. Parry Romberg syndrome is associated with neurological anomalies

A three year-old boy was born with facial deformities as the result of a prenatal complication. He was born with a hole in his face, which was where his nose was supposed to be. He was also born without an upper jaw and eyes. The little boy, whose name is Yahya, was shielded from other people by his parents.

Ichthyosis is a skin disease that can be inherited or acquired. Ichthyosis cause the appearances of scales (like fish) on the skin, which is where is gets its name. Inherited Ichthyosis shows in the first year of life, and sticks with the person for their entire life. There are five different types of the condition, and there is no cure for any of them. Ichthyosis Vulgaris is mild scaling and dryness. People with Epidermal Ichthyosis have thick scales, and blister easily. Lamellar Ichthyosis is when there are thick and platelike scales. People with Congenital Ichthyosiform Erythroderma have light scaling but very red skin. Lastly, localized Ichthyosis is scaling, but only in certain places, not the entire body. Ichthyosis is passed through

Crainosynostosis is a syndrome in which an infant skull fuses together prematurely. In doing so, the normal development of the head is prevented which leads to deformation in the facial bones. Numerous of the Crainosynostosis syndrome cases can be recognized at birth, but in some individuals it may take as long a year to even be determined. In order to keep up with the expansion of the head, the skull continues to grow until the brain is fully developed. The brain grows at a very rapid pace and normally reaches it potential adult size within the first year. The bones in the head are pushed apart as the brain grows. When the skull is already premature fused together, it can lead to distortion. Research that has been conducted indicates that

Stickler Syndrome - NORD (National Organization for Rare Disorders). (n.d.). Retrieved April 20, 2016, from http://rarediseases.org/rare-diseases/stickler-syndrome/

Hutchinson Gilford Progeria syndrome (HGPS) is a very rare and destructive genetic disorder. It is progressive, causing children to age rapidly beginning 2 years after birth. Children with Progeria usually appear normal at birth, however by 1 year the signs and symptoms of Progeria begin. Symptoms of Progeria include short stature, bulging eyes, small jaw, disproportion of head to body, alopecia, beaked nose, pathologic bone fractures, hearing loss, photophobia and hypertension. (Alves and others 2014) Progeria’s occurrence is 1 in 4 million to 1 in 8 million live births and males are more frequently affected than females. The average life expectancy for a child with Progeria is about 13. (King 2013) However some with the disease die younger and some live to be 20 years or older. Death in Progeria is primarily caused by heart attacks and atherosclerosis. Atherosclerosis is a disease in which the arteries become hardened. (Bhimji 2011)

Cleft lip and cleft palate are abnormal deformities that develop before the embryo is born from the mother’s womb. Cleft lip is considered a gap in the skin of the upper lip, and a cleft palate is an opening in the roof of the mouth, which in certain occasions can also affect other areas of the face in newborns. Such areas are the nose, ears, forehead and eyes. Clefts deformities can be identified through prenatal ultrasounds on unborn babies. In those newborn infants they can be seen once baby is born. A physical exam can diagnose the Orofacial malformations. According to present studies, these Orofacial malformations are the second most common birth defect recorded in live births. Cleft lips, with or without palate, are defects that are separated into groups such as, cleft lip, and cleft lip with cleft palate, but are studied as an individual group since they commonly share similar pathogenesis. According to Genisca, it was stated that these Orofacial malformations in newborns are completely unrelated to other major birth malfunctions or any genetical disorders. These malformations can attribute to different factors such as, race or gender of the babies, and mothers age at the time of delivery. Genisca states that, “Previous work has consistently shown a lower birth prevalence of Orofacial clefts among non-Hispanic Blacks, compared to non-Hispanic Whites. (Genisca 2009, 1) Also, another important fact that was revealed in one study was an association between Orofacial

Kabuki syndrome or kabuki disorder is a type of disorder that is rare and affects many parts in human body. It can be seen clearly through the facial features for example arched eyebrows, long eyelashes, large protruding earlobes and etc. The name of the disorder comes from the similarity of the person with the disorder and the facial appearance of stage makeup a Japanese traditional theatre show called Kabuki. People with this disorder would have delay in development from