Jackson-Weiss Syndrome is a rare genetic disorder characterized by distinctive malformations of the head and facial area and abnormalities of the feet. The syndrome is very rare for people to get because it happens through genetics which has mutations in the FGFR2 gene that causes the syndrome. Jackson-Weiss Syndrome is a very interesting diagnosis that is inherited, has different features, and surgical procedures. The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints between certain bones of the skull, unusually flat, underdeveloped midfacial regions abnormally broad great toes, and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited. Mutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called …show more content…
fibroblast growth factor receptor 2. It occurs in chromosome number 10. Among its multiple functions, this protein signals immature cells to become bone cells in a developing embryo and fetus. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which promotes the premature fusion of bones in the skull and feet. Which the condition inherited is an autosomal dominant trait, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Many of the characteristic facial features of Jackson-Weiss syndrome result from the premature fusion of the skull bones and foot bones.
The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. At birth, the bones of the skull are not joined together; they close up as the child grows. In Jackson-Weiss syndrome, the skull bones join together too early. This is called "craniosynostosis." Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features. The big toes are enlarged and bend away from the other toes. They have very different ways off forming in the feet including the big toes are short and wide, the big toes also bend away from other toes, and the bones of some toes may be fused together which they call “syndactyly” or abnormally
shaped. Some of the birth defects present in Jackson-Weiss Syndrome can be corrected or fixed a little by surgery. Treatment can be done through surgery (multi-staged) for some facial features, feet, and fingers. Treatment of Jackson—Weiss Syndrome is usually treated by doctors and therapists who specialize in head and neck disorders. These teams of specialists often work in a special craniofacial center or clinic. The National Craniofacial Association has information for craniofacial medical teams and also provides financial support for nonmedical expenses of individuals traveling to a center for treatment.
ACHONDROPLASIA is known as being undersized, or less than 50in. in height. Having short limbs, a normal sized trunk, large head with a depressed nasal bridge and small face. This is a result of a disease in the thyroid gland. It can also be caused by Down syndrome or absorption, a cartilaginous tissue during the fetal stage. Hypochondroplasia, a mild form of dwarfism. Spinal tuberculosis and the deficiency of the pituitary gland secretions. Treatment with thyroxin or thyroid extract early in childhood results in normal growth and development. Somatrophin, also known as the human growth hormone is secreted by the anterior pituitary. Respiratory problems start to occur in infants. Symptoms of problems include snoring and sleeping with neck in a hyperextended condition. The limbs have rhizometic shortening. The legs are straight in infantry but when a child. He begins walking they develop a knock-knee position. When the child continues to walk legs begin to have a bowed-leg look. Occasionally, these curvatures are fixed. As the child continues to walk the kyphosis disappears and the back assumes a lordotic posture. If a delay in child’s walking occurs, the spine should be monitored closely for signs of gibbous formation. In infancy, hypercephalus can occur. Infants head circumference should be monitored close . Monthly checks of head circumference must be monitored. Radiologic studies are indicated if head circumference raises to disproportionately, or if symptoms of hydrocephalus. Child’s pediatrician should have a copy of head circumference curves for children with achondroplasia. Radiologic procedures for dwarfism include head ultrasound, C-T scan, or MRI of the head. If intervention is necessary, a ventriculoperitoneal shunt is placed relieving the pressure. Infants should also be monitored for foramen magnum compression. It is the opening at the base of the skull in which the brain stem and cervical spinal cord exit. When you have achondroplasia the foramen magnum is compressing the brain stem and spinal cord. Symptoms of narrowing include apnea the cessation of breathing and cervical myleopathy. C-T scans and MRI scans are done to examine the size of the infectious foramen magnum. A neurosurgical procedure called a foramen magnum decompression is executed to alarge foramen and alleviate further symptoms. Adolescents are at risk of getting lumbosacral spinal stenosis. The lumber spinal cord or nerve roots become compressed producing nerosurgical symptoms. Initial symptoms including weakness, tingling, and pain of the legs. Pain usually alleviated by assuming a squatting position.
ACH, is an interesting disease, one that after many years of research still remains a partial mystery. The fact that a single nucleotide on one chromosome can so greatly affect an individual is astounding, especially coupled with the fact that this mutation is so homogenious in genotype and phenotype. With more skeletal dysplasias being connected to FGFR3, research has increased to fully determine and define the pathways involved with this gene. Determining the reason for such a high mutation frequency and the link to paternal age are also being looked into. Once there is more understanding of how this mutation affects the body, treatments and possibly cures can be found for these individuals.
Throughout this semester, I have gained a abundance of information on genetics that I never knew, but reading the book "Mendel 's Dwarf" did make it a little bit more difficult for me to understand genetics. After looking back at my notes I remembered early in the semester our professor discussing the condition that Dr. Benedict Lambert suffers from which is Achondroplasia(dwarfism). Achondroplasia is condition of short limbs, usually in arms and legs, the torso and head size is majority of the time normal. Simon Mawer describe Dr. Lambert body as "His body is not normal, his is not normal, his limbs are not normal. He possesses a massive forehead and blunt, puglike features. His nose is stove in at the bridge, his mouth and jaw protrude. His
Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions.
Altherr, M.R., Bengtsson, U., Elder, F. F. B., Ledbetter, D. H., Wasmuth, J. J., McDonald, M.E., Gusella, J. F., Greenberg, F. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am. J. Hum. Genet. 49: 1235-1242, 1991. [PubMed: 1746553]
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 are considered people with supernatural powers. Many people call dwarfs midgets, but to them, it is very disrespectful because midget literally means little person.
Clubfoot is a common congenital deformity of one or both feet. Clubfoot can sometimes be identified during fetal ultrasound or by visual inspection at birth. Physiotherapist Kelly Gray and Doctor Paul Gibbons describe clubfoot (Australian Family Practice (AFP), 2012) as “a deformity characterized by structural equinus (pointing down), adductus (turning in), varus (twisting, such that the heel is pointing in or upward), and cavus (high arch)” (p. 299). Skeletal abnormalities of clubfoot can include small calcaneus, navicular, and talus bones and a misshapen subtalar joint (Clubfoot, 2011). According to the Mayo Clinic (2013) the calf muscle of the affected leg is usually smaller than the non-affected leg, and the affected foot can be ½ inch shorter than the non-affected foot.
This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two are just as long as the original term for the disorder. They are known as Cardio-facial-cutaneous syndrome and Facio-cardio-cutaneous syndrome. It was first construed in the year of 1986 by J.F. Reynolds and associates at two places; the Shodair Children’s Hospital in Helena, Montana and the University of Utah. Its explanation was concluded from the examination of eight unrelated patients who all shared many of the same characteristics. They all had psychological disabilities and analogous aberrations in their appearance of their face, hair, skin, nails, and heart.
Achondroplasia (ACH) is a genetic disorder that is inherited as an autosomal dominant trait. This means that the disorder is not X or Y linked and is caused by the mutation of any other type of chromosome. Since ACH is a dominant disorder, meaning only one copy of a gene has a mutation or a mistake; it only takes one parent to cause the gene mutations. Dominant disorders are not inherited from mutated gene in the parent; they are new mutated genes that develop in the child, which is why people that suffer from Achondroplasia can have average-sized kids. ACH is a birth defect that is caused by mutations in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. FGFR3 is the protein responsible for lengthening bones. Its specific role is to slow down bone growth and balance the effects of other receptors and molecules that encourage growth. When FGFR3 is active, bone growth is slowed and when it’s inactive, bone growth accelerates. In people that suffer from Achondroplasia, FGFR3 is never in inactive so their bone growth never accelerates. Mutations on the FGFR3 gene are what prevent the growth of cartilage. When the receptor (R) of FGFR3 is missing, the growth factor can’t act properly and the growth...
Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this genetic mutation manifests thought out the body, the presenting symptoms, the risk factors, treatment, and education needs of the patient.
Girls with this syndrome may have many middle ear infections during childhood; if not treated, these chronic infections could cause hearing loss. Up to the age of about 2 years, growth in height is approximately normal, but then it lags behind that of other girls. Greatly reduced growth in height of a female child should lead to a chromosome test if no diagnosis has already been made. Early diagnosis is very importance in order to be able to give enough correct information to the parents, and gradually to the child herself, so that she has the best possibilities for development. Early diagnosis is also important in case surgical treatment of the congenital heart defect (seen in about 20 per cent of cases) is indicated.
Children with Hutchinson-Gilford are born looking normal and healthy, but during their first year of life certain symptoms start to appear (Gordon). A child’s height and weight begin to fall below the average for their age, and their joints begin to stiffen (...
Clubfoot is defined as a congenital foot deformity characterized by a kidney shaped foot that turns inward and points down. The forefoot is curved inward, the heel is bent inward, and the ankle is fixed in planter flexion with the toes pointing down. Shortened tendons on the inside of the lower leg, together with abnormally shaped bones that restrict movement outwards cause the foot to turn inwards. A tightened achilles tendon causes the foot to point downwards. The medical term for clubfoot is talipes equinovarus . It is the most common congenital disorder of the lower extremity. There are several variations, but talipes equinovarus being the most common. Clubfeet occurs in approximately 1 in every 800-1000 babies, being twice as common in boys than girls. One or both feet may be affected.
Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. Achondroplasia is a congenital disorder of bone formation characterized by short stature craniofacial malformation, and vertebral anomalies. A child with achondroplasia has a relatively long, narrow torso with short extremities and a disproportionate shortening of the proximal segments of the limbs. This disorder is usually diagnosed at birth because of a mutation is in the genes encoding fibroblast growth factor receptor 3. If one parent has the condition, the child has a 50 percent chance of getting it. If both parents have the condition, the child has a 25 percent chance of normal stature, a 50 percent chance of having one defective gene, causing achondroplasia
There are many different types of dwarfism that researchers have confirmed today, but there still are many genes for dwarfism that remain unidentified.The most common of these known causes is achondroplasia, a bone growth disorder.The Little People Online website states that most dwarfs who suffer from achondroplasia are born to “average-size” parents, and that their birth rate is somewhere between onein26,000-40,000www.lpaonline.org).The main characteristics of this form of dwarfism are normal trunk size with short appendages, irregularly large heads wi...