The deformation known as clubfoot is a standout amongst the most widely recognized birth imperfections including the musculoskeletal framework. It presents intrinsic dysplasia of every single musculoskeletal tissue distal to the knee. It is a deformity in which the foot is twisted so that the sole cannot be placed flat on the ground. Understanding the microscopic structure of diseased tissues that characterize clubfoot are very important areas of research. The major component of the ligament, muscle, tendon, bone and joint cartilage involved in clubfoot is collagen.
Type 1, also known as NS1 and Male Turner syndrome, individuals are affected with most characteristics above. One added effect is the low number of blood platelets, which means blood clotting is very uncommon in these individuals. NS2 is closely related to NS1, except for the inheritance pattern. The last type of the condition is neurofibromatosis-Noonan syndrome, but it is really just an overlap of neurofibromatosis and NS1, however, it is only a chance occurrence, because "these conditions have two distinct gene locations, with no apparent overlap" (Gale
Fibrodysplasia Ossificans Progressiva which is sometimes referred to FOP is a very rare genetic disorder in which bones grow uncontrollably to the point of causing disability (Fibrous Dysplasia). As one of the rarest and most disabling diseases, FOP causes bone to form in and over muscles, tendons, ligaments, and other connective tissues (What is FOP). Bridges of this extra bone develops across joints which causes immobility (What is FOP). These bridges also create a second skeleton that imprisons the body in bone.
Description of the limb girdle muscular dystrophies [LGMD2B] Autosomal recessive Limb girdle muscular dystrophy 2B also known as dysferlinopathy, is due to the mutations in the gene dysferlin which codes for the protein involved in the membrane repair. It is ultimately mapped to the chromosome region 2p13 (C. Angelini*{, 2010)[1] which is caused by primarily, proximal weakness. (Aoki, 2004)
Having a mutated ATP7B gene, and consequently a dysfunctional P-type ATPase protein, is considered to be an autosomal recessive trait. People who have this trait are able to pass it down to their offspring, who then become carriers of the gene themselves. However, since this mutation is a recessive trait, the affected offspring do not suffer from Wilson’s disease if only one parent is a carrier of the mutated ATP7B gene. Likewise, in the event that both parents are carriers of the recessive ATP7B mutation, the offspring will indeed inherit Wilson’s disease as a
PIGEON TOE The medical term for the condition that causes the toes to point inward while walking is metatarsus varus or metatarsus adductus, but commonly referred to as pigeon toe or intoeing. This condition is most often seen in infants and children under the age of two, and may involve one or both feet. WHAT CAUSES PIGEON TOE IN CHILDREN?
For nearly century glaucoma is considered as one of the most common eye pathologies around the world, but also one of the leading causes of blindness. In fact, Glaucoma specifically in the United States, according to the book essentials of ophthalmology “ affects more than two million Americans of all age” (p. 108). Before going further in facts, a deeper look about such disease is necessary; an analysis of his origin, the causes and the solutions to the problem are indispensable. Moreover, an examination of why is African -American mostly affect by that kind of disease will be also addressed ORIGIN, DEFINITION, CAUSES Douglas H. Johnson and Richard F. Brubaker in the book “essentials of ophthalmology” asserts that “the term glaucoma (glaukos, bluish green) dates from ancient Greek time and referred to blindness from
Aarskog Syndrome Description Aarskog syndrome (also known as Aarskog–Scott syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person 's height, muscles, skeleton, genitals, and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately, Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog syndrome have a shawl scrotum, in which the scrotum surrounds the penis.
Introduction Vision is one of our most valuable sensory modalities, it is the way that we as individuals identify our surroundings and ourselves. African American children at a young age are more susceptible to having eye problems mainly because of the fact that they are still children and still exploring their surroundings. It is estimated that around 500,000 children become blind each year but that number is expected to grow. In developing countries that statistic is even worse as around 60 percent of individuals die within a year of becoming blinded (NIH, et al, 2015). This brings about the question as to what are the true causes of these blindness’s
CF is an autosomal recessive trait and the gene mutation is located on chromosome #7. There are several different mutations of this gene that could result in cystic fibrosis. The most common mutation is the absence of three base pairs in the DNA sequence, which is 250,000 nucleotides
achondroplasia (ACH) Achondroplasia (ACH) is a very rare (fewer than 20,000 US cases per year) yet the most common (occurring at one in every 15,000 to one in 40,000 live births) hereditary form of short-limbed dwarfism. Achondroplasia can be inherited from a parent with the disease, however most cases of ACH are because of new mutations in the FGFR3 gene. (Over 80% of people with ACH have parents who are unaffected).
The CFTR gene stands for cystic fibrosis transmembrane conductance regulator. a. There is more than 1,000 types of mutations. Mutations change single protein building blocks which involve amino acids or delete a tiny amount of DNA from the CFTR gene. The most common mutation is called delta F508.
Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and
One can only get spinal muscular atrophy only if both of their parents had copies of a defective gene. Furthermore, if the
Cystic Fibrosis is a hereditary condition, and for a child to get the disease, they have to get one copy of the defective gene from their mother and their
