Mann And Russel's Seckel Syndrome

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 (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

The provider is correct that short stature is not necessary for the diagnosis of growth hormone deficiency if the member is short for expected height; however, this member’s height has never clearly been outside the expected range for family. It also can be argued that delay in growth velocity can be masked by the pubertal growth spurt. However, review of the growth charts provided by the member’s primary care physician and endocrinologist does not clearly demonstrate abnormal growth velocity. While he did have one point that dipped down to the 10th percentile, overall his points are between the 10th and 25th percentiles and generally follow the same curve, indicating that one point is likely aberrant or perhaps consistent with normal prepubertal slowing in growth. After puberty started, the member grew at the upper end of the normal range, which is generally not seen in growth hormone

Noonan syndrome is a genetic birth defect that results in many physical deformities and possible developmental handicaps. Noonan Syndrome affects male children while Turner Syndrome affects females. This paper will focus solely on Noonan Syndrome, which affects 1 in approximately 2,000 people. Complications include but are not limited to: short stature, widely spaced eyes, some form of heart disease, and stunted puberty or infertility. Noonan syndrome is a biochemical disorder that occurs before a person is born and is formed through the genetic makeup of the parents that result in that of their offspring.

beginning with growth failure during the first year of life. Progeria is a rare condition but has come into

Progeria, an extremely rare disease caused by a slight genetic defect, victimizes every 1 in 4 million children. , (3). At the moment, there are twelve cases of Progeria in the US, and no more than one hundred have been reported around the world. While the child suffering from Progeria will appear to have no symptoms at birth, the tell tale signs of the fatal disease will begin to surface within a few months, (1). The common first symptom of a child who may be a Progerian is that the ends of their shoulder bones will be re-absorbed into their bodies. Soon, he or she will be underweight and undersize for his or her age. Hair loss and dental decay will follow. The disease slowly eliminates body fat. Eventually the

In the medical world, there is a variety of genetic disorders that affect many people. One of which is Pituitary Dwarfism. Dwarfism is a rare genetic disorder that includes the underdevelopment of the body. Specifically, Pituitary Dwarfism is a rare form of Dwarfism that is caused by the absence of a functional anterior pituitary gland which is located in the brain. It does not release the growth hormone GHRH needed for proper development. Although this mutation does not affect many people, the patients that do carry this genetic disorder are greatly affected. The diagnosis of this disorder is a fairly simple process involving a blood test and an analysis of the patient’s growth compared to a person with normal alleles. These people have life-changing

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.)

Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The average birth length, 52.6cm, the growth parallels curve at or above 95%, and average birth weight is 4kg. For the head there are a metopic ridge, large fontanel, and prominent occiput. There are also coarse facial features and midface hypoplasia. This also involves linear ear lobe creases, posterior helical indentations, prominent eyes, and macroglossia. For the skeleton, there is advanced bone age, most pronounced during first 4 years. Patient could also have nevus flammeus, and even heart issues. Some rare neurologic situations are posterior fossa abnormalities, dandy-Walker malformation, and blake's pouch. There is an increased frequency of malformations and medical complications, including abdominal wall defects and visceromegaly involving liver, spleen, pancreas, kidneys, or adrenals.

Hence, the syndrome was being named after the discoverers of this syndrome, who were Smith and Magenis. (Syndromespedia)

You have some great insights in your discussion post. There is always positive and negative effects in development so its important to prevent the negative as much as possible. The skull is also soft and not as hard when we are born so babies are very vulnerable. You pick two interesting disorders and both are very sad and somewhat preventable. Malnutrition is very sad problem and a child should have to suffer from not getting the proper nutrition or having access to healthy foods. There are many programs out there putting a dent to prevent this on is called Stop Hunger Now. To grow properly nutrition plays a big role in development. The proper nutrients help with the rapid growth for the child to be able to reach its physical potential

Achondroplasia is a disease that is dwarfism which is a change in growth of long bones, in resulting very short limbs. Sometimes a face that is small in relation to a normal face sized to skull (hereditary condition). An adult height is four feet ten inches or less. It’s a genetic or medical condition. The major disorders in this disease is during early fetal development, much of your skeleton is made up of cartilage doesn’t convert to bone. Caused by mutations in the gene, FGFR3. This gene instructs your body to make protein necessary for the bone growth. It interferes with the normal skeleton development. The symptoms of this disorder is when at birth/child: short legs and arms, an underdeveloped area of the face between the forehead and upper jaw, short fingers, ring and middle finger point away from each other, and a disproportionately large head compared to the body. The symptoms for health: decrease muscle tone which can cause delays in walking and other motor skills, apnea which involves brief periods of slowed breathing or breathing that stops, hydrocephalus or water on the brain, spinal stenosis which is a narrowing of the spinal canal that can compress the spinal cord. Last but not least but the children/adults symptoms: have difficulty bending their elbows, be obese, experience recurrent ear infections because of narrow passages in the ears, developed an abnormal curvature of the spine called kyphosis or lordosis, and develop new

Incidence estimated to be as high as 1 in 100 births.(2) Deformity usually present at birth but may not present until the first year of life, hip dysplasia and other associated anomalies should be excluded.(3) Pathogeneis is unknown but is believed to result from intrauterine crowding or positioning.(2)

Short stature is a common reason for referral to pediatric clinics, regardless of the cause whether it is chronic disease, familial short stature, or constitutional delay of growth and puberty. Moreover, there are many established maternal risk factors for SGA which include poor maternal weight gain in pregnancy due to insufficient diet, medical history of chronic hypertension and renal

2- Naglaa M. Kamal: (MD), Department of Pediatric - Faculty of Medicine- Cairo University, Egypt.