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…
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
I will discuss the general symptoms of these two types along with pathology, diagnostic factors, and the different treatments for this disorder (Smith). EDS can vary in severity and are transmitted as autosomal recessive, autosomal dominant, or X-linked recessive traits. The primary characteristics are hyperextensible skin and joints (Dia. 1-2, pg.6), tendency to bruise easily (Dia. 3, pg.6), reduced wound healing capability, pseudotumors, and ocular defects. Differences within the six types may reflect inter/intra familial variability or genetic heterogeneity. Each type of EDS is classified into symptoms and signs that result (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L).
FOP occurs randomly and is not inherited. Experts believe that one cause of fibrodysplasia ossificans progressiva is born with mutations in the ACVR gene what provides the body with instructio...
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
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.
...ularly of the hands and feet, including plantar hyperplasia, lipomas, and other unspecified subcutaneous masses. Merrick has still not been diagnosed with a for sure disease, although almost all are certain it is Proteus syndrome.
About one out of every 10,000 to 100,000 births, a child is born with the birth defect: Poland Syndrome or Poland Anomaly. The birth defect can be apparent from either birth or adolescence depending on ...
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
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.
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.
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...