Nail-Patella Syndrome: A Case Study

OA is a musculoskeletal disease that causes chronic joint pain and reduced physical functioning (Laba, brien, Fransen, & jan, 2013). Osteoarthritis (OA) is a non-inflammatory disorder of synovial joints that results in loss of hyaline cartilage and remodeling of surrounding bone. OA is the single most common joint disease, with an estimated prevalence of 60% in men and 70% in women later in life after the age of 65 years, affecting an estimated 40 million people in the United States (Goodman & Fuller, 2009). Women are more commonly affected after the age of 55, almost everyone has some symptoms by the age of 70 (Tan, Zahara, Colburn & Hawkins, 2013, p.78). Osteoarthritis can be described radiological, clinical, or subjective.

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 FBN1 gene is responsible for providing instructions for the production of fibrillin-1, which is a protein that is secreted into the matrix of connective tissue (“FBN1,” 2015). Therefore, a mutation in this gene can cause the excessive production of fibrillin-1, and when fibrillin-1 binds to other proteins they form threads called microfibrils. Microfibrils contain a growth factor called transforming growth factor beta or TGF-β (“FBN1,” 2015), so when there is an increase of TGF-β, problems with the connective tissue throughout the body can occur (“What is Marfan Syndrome? | The Marfan Foundation,” n.d.), more of these problems will be elaborated upon further in the report. The genetic mutation in the FBN1 gene is usually hereditary, but it is possible for one to be the first in their family to have this genetic mutation. If one has this mutation

In the lab, we looked in the microscope at many different types of tissues such as epithelial, connective, and muscle. Within connective tissues, there are many tissue disorders that can affect your muscles, joints, or skin also your organs and organ systems. One connective tissue disease that I found was Marfan syndrome. Marfan syndrome is an inherited disorder that affects the connective tissue. Marfan syndrome affects about 1 in every 5000 people. People that have marfan syndrome usually have trouble with their eyes, heart, skeleton, and blood vessels. They are also known to have very long and unproportioned arms and legs and long spider- like fingers and toes. They can also have crowded teeth, sunken or bulging chest, flat feet, scoliosis, and many other different problems. These are just some of

Witkop syndrome is manifested by defects in the nail plates of fingers and toes typically and hypodontia, with normal hair and sweat gland function. There is a pattern of missing teeth.8 Absent maxillary incisors, second molars, and maxillary canines are the most common missing teeth.9 Genetically, mutations in genes MSX-1, PAX9, PsITX2, LTBP3, WNT10A, EDA and EDARADD, AXIN2, and IKBKG have been found associated with oligodontia. Mutations in MSX-1 have been shown to be associated with Witkop’s syndrome.[10)

Healthy digestive system is needed to have a proper elimination. This family suffered from chronic constipation, irregular bowl patterns, gas and heart burns. High stress and taking multiple over the counter medications contributed to this families altered elimination patterns. Their diet consists of foods that have low fiber, high starch and high fat, resulting in the constipation. Father suffered from prostate problems, which made him wake up multiple times middle of the night to urinate.

Polydactyly is one of the most common hereditary limb malformations and it is characterized by additional digits in the hands and/or the feet. It primarily presents as an additional pre-axial or post-axial digit. Polydactyly is a highly heterogeneous condition and shows a broad inter- and intra-familial clinical variability. Pre-axial polydactyly II (OMIM 174500), also known as triphalangeal thumb polydactyly, is a disease in which the biphalangeal thumb is replaced by an triphalangeal thumb with a normal metacarpal bone. In some cases, there is also duplication of the great toe. Pre-axial polydactyly II is caused by heterozygous mutations in a Sonic hedgehog (SHH) enhancer element located in intron 5 of the LMBR1 gene on chromosome 7q36.3.

Dwarfism is a syndrome where a person has abnormal bone development. Symptoms include short stature, bowed legs, curvature of the lower spine, and a prominent forehead. The most common type of dwarfism, Achondroplasia, is characterized by a glycine to arginine mutation on codon 380 in the fibroblast growth factor receptor transmembrane domain 3 gene. When the mutated fibroblast growth factor receptor 3 protein interacts with a fibroblast growth factor ligand, the receptor is stabilized and a cascade of events occur. Downstream receptor pathways that are affected by the mutation involve signal transducer and activator of transcription 1 and phospholipase C, gamma 1. Different mutations on the fibroblast growth factor receptor transmembrane

As mentioned before, MLIV is a rare autosomal recessive disorder. The gene affected is the MCOLN1 gene, which is located on chromosome 19p13.2–13.3. The MCOLN1 gene is around 12 kb and contains 14 exons (1). The most common pathogenic variant of the mutation involves splice variant c.406-2A>G. This splice variant prevents splicing of the mRNA encoding TRPML1 at exon 4, which results in abnormal mRNA (1). The second most common involves a deletion of 6.4 kb of DNA, including exon 1 through 5 and a portion of 6 in the gene (1). Other variants include frameshift and missense mutations in DNA sequences involving the MCOLN1 gene.

Type II syndactyly or synpolydactyly(SPD) is a semi dominant inherited limb malformation that involves a fusion of digits. It is caused by mutations in HOXD13 on chromosome 2 due to polyalanine repeat expansions. Polyalanine repeats in SPD are mitotically and meiotically stable, causing polymorphisms to be rare, unlike other nucleotide repeat expansions such as Friedreich’s ataxia. HOXD13 is a member of the HOX family, a family of transcription factors that are proteins which contain homeodomain that are important for controlling cell fate along the limb axes and body. HOXD13 is a part of the HOXD gene cluster and crucial for limb development, particularly during the early and late stages of limb development. The stage occurs during the creation of the limb buds at week 4, during this stage the limbs have AP polarity through the expression of sonic hedgehog(shh) signaling from the zone of polarizing

Patellofemoral pain syndrome What is Patellofemoral pain syndrome? It is a condition in which the cartilage under the kneecap is damaged due to injury overuse. ❏ Symptoms of Patellofemoral pain syndrome: The most common symptom is knee pain that increases with stair climbing or squatting.

A genetic disorder is a genetic condition, originally caused by a DNA abnormality. Genetic disorders can be inherited or can form early, in the development of child’s womb. Marfan syndrome is a genetic disorder that affects the body’s connective tissues in many parts of the human body. These specific connective tissues are made with the help of fibrillin, to produce elastic fibers, which are essential for connective tissues. The connective tissues are the tissues that provide strength and flexibility to many structures such as the bones, blood vessels, ligaments, muscles, and heart vessels. Connective tissues also allow the body to grow and develop properly. Marfan syndrome occurs when there is a mutation in the gene, specifically what tells

The causation of MD covers a broad spectrum, hence it may be classified as a syndrome. In this section we summarize the predisposing factors of MD and focus on genetic factors.

Osteoarthritis is the most common joint disorder, and more than half of all Americans who are older than 65 have been diagnosed with osteoarthritis. However, recent US data has revealed knee osteoarthritis does not discriminate age, and there is growing evidence that osteoarthritis affects individuals at a young age. The annual cost of osteoarthritis due to treatment and loss of productivity in the US is estimated to be more than 65 billion dollars.1 With no cure currently available for osteoarthritis, current treatments focus on management of symptoms. The primary goals of therapy include improved joint function, pain relief, and increased joint stability. Although the exact cause of osteoarthritis is unknown, many risk factors have been identified including increased age, female gender, obesity, and trauma.2 Within these risk factors, the etiology of osteoarthritis has been divided into anatomy, body mass, and gender.

The disorder is a syndrome that is found in newborns and children that consisted of osteoporosis with fractures and skeletal deformities (Mccance & Huether, 2014). Its classification is based on both inheritance and clinical findings. In the most severe form of this disorder, the child is usually stillborn or dies soon after birth, but some may survive into childhood. In its more severe forms the signs and symptoms are evident at birth because fractures and deformity have occurred in utero. The less severe forms may be evident until the child starts to walk. Clinical manifestations of this disease are osteoporosis and increased rate of fractures, possible bony deformation, triangular faces, possible vascular weakness, possible blue sclera, and poor dentition (McCance & Huether, 2014). The main errors in this disease is due to the synthesis of collagen, a triple helix that contains two matching alpha chains and one beta chain. Collagen is mostly present in bone, cartilage, eye tissue, skin, and the vascular system. The severity of this disorder phenotype along the related anomalies are primarily dependent on the severity of the genetic anomaly and the part of the triple helix that is affected (Greeley, et al., 2013). Moreover,