Orofacial-Digital Syndrome Analysis

"DSPP Gene - Genetics Home Reference." U.S National Library of Medicine. U.S. National Library of Medicine, Nov.-Dec. 2016. Web. Nov. 2016.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

abnormally shaped head, and long overlapped fingers. There is also bone abnormalities, frequent lung and

INTRODUCTION. Idiopathic congenital nystagmus, or idiopathic infantile nystagmus is a disease characterized by the rapid, involuntary eye movement. This movement is typically in the horizontal direction, however, movement in other directions have been observed. One way to get nystagmus is through genetic mutations. Nystagmus caused by genetic mutation is seen at a relatively young age but cannot yet be treated. The disease is not understood well, it is believed that the cause is a developmental defect. The linkage, and inheritance has not been identified, the patterns suggest that multiple genes are involved in the disease and that there are loci on different chromosomes with three of the five loci located on the X chromosome. Mutations have been linked to the FRMD7 gene, a gene that consists of 12 exons, of the FERM family. The function of FRMD7 have yet to be determined however an abundance of the protein in the brain in areas associated with the eye. Mutations within this region consist of missense, deletion, tranversion and nonsense mutations. Over forty-four mutations that lead to ICN have been found in the FRMD7 gene. Learning more about the mutation of FRMD7 in ICN is important because these mutations may prevent elongation of neurite processes during differentiation preventing axons from responding to stimuli (Watkins et al. 2012).

The condition presents itself congenitally. Cardiofaciocutaneous syndrome is a diversified congenital abnormality disorder that has numerous amounts of obvious symptoms. Individuals in possession of this disorder have oddities in their facial features, skin and hair, heart, digestive system, growth, and intellectual ability. Typically, they have a large forehead and head, a concave nasal arch, and droopy wide-spaced eyes. This causes them to be astigmatic and have skittish eyes, which can possibly result in abated eyesight and awareness. Their skin awfully lacks moisture and is quite thick. They have very little curly and brittle hair on their head. They also may not have, or only have very little, eyelashes or eyebrows.

Dr. Tammy Kussman, DDS is a dental practice that is located Brentwood, Tennessee. Their dental services include cleanings and prevention, cosmetic and restorative, CEREC Same Day Crowns, sedation dentistry, ClearCorrect removable orthodontics, oral surgery, plus more. Dr. Tammy Kussman, DDS also offers the Under Armour Performance Mouthwear™. Their cleanings and prevention services include teeth cleaning - prophylaxis and debridement, scaling and root planing, sealants, fluoride treatments, and bruxism and mouthguards. Dr. Tammy Kussman, DDS also renders their cosmetic and restorative services such as cavities and restoration choices, conscious sedation dentistry, CEREC Same Day Crowns, fillings, crowns, root canals, and Zoom! whitening system.

Clinically, the oral findings were “high arched palate in all cases, malocclusion in 6 cases and macrostomia in 4 cases while multiple impactions of the teeth were detected in four patients” (Gataa, 2015, p. 7713). Additionally, only one patient had a cleft palate. From a radiographic perspective, all patients had zygomatic hypoplasia and seven patients had maxillary sinus hypoplasia. Many patients also had micrognathia and short ramus of the mandible. As only two patients had family history of TCS, six patients had TCS due to a new mutation. These results exemplify the notion that TCS patients are all affected differently, and with varying types and degrees of deformities, due to the fact that most cases arise from a new mutation.

As stated before FAS is the leading cause of mental retardation. There may be mild to severe growth retardation including decreased birthweight and head circumference in addition to continued growth retardation for height, weight and head circumference. Children with FAS fail to ever catch up in growth during the preschool years and have a tendency to remain thin even though there is adequate nutrition. These children often have anomalies and deformed facial features such as short palpebral fissures, flat midface, thin upper lip, indistinct philtrum, epicanthal folds, low nasal bridge, minor ear anomalies, micrognathia, strabismus, ptosis of the upper eyelid, narrow receding forehead, and a short upturned nose (Hess and Kenner 2). In broader terms the face of a FAS child includes a small head; a small maxilla which is the upper jaw; short, upturned nose; smooth philtrum which is a groove in the upper lip; smooth and thin upper lip; and small slightly narrow eyes with noticeable epicanthal folds (http://www.adam.com/ency/article/0009111.sym.htm). In the American Journal of Public Health and article called Tobacco and alcohol use during pregnancy and risk of oral clefts, described a study conducted to examine the relationship between alcohol consumption during the first trimester of pregnancy and oral clefts (Lorente, Cordier, Goujard and Ayme 1). First of all during the 6th through

At rest and during speech, X showed symmetry in her lips and face. She was a nose breather and showed adequate range of motion for lips and jaw during speech. X demonstrated adequate tongue-jaw and lip-jaw dissociation. She demonstrated sufficient lip strength and was able to produce a tight labial seal. X presented with adequate range of motion of her tongue as noted by her ability to protrude and retract the tongue, create lateral tongue wags, and elevate the tongue tip. She presented with difficulty when fully encircling her lips with her tongue. The client’s dentition was unremarkable.

Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and swallowing problems, coloboma of the eyelids, wide mouth which gives limited mouth opening, dry eye syndrome (causes infections) and downward sloping eyes. Persons with this disease can be born blind, deaf, suffer from depression and/or are unable to

Miller-Dieker lissencephaly syndrome (MDS). MDS features include classic lissencephaly (incomplete or absent gyration of the cerebrum), craniofacial dysmorphims, mental retardation and intractable epilepsy. MDS is a life-shortening disease, with death most often occurring during early childhood (Dobyns, W.B., Curry, C.J.R., Hoyme, H.E., Turlington, L., and Ledbetter, D.H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet 1991. 48, 584–594; Nagamani, S.C., Zhang, F., Shchelochkov, O.A., Bi, W., Ou, Z., Scaglia, F., Probst, F.J., Shinawi, M., Eng, C., Hunter, J.V., et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

A dysfunction of an enzyme in the peroxisome leads to the accumulation of very long-chain fatty acids (VLCFA) in several areas (several areas of what?) including the central nervous tissue(CNS). The accumulation of VLCFA is toxic leading to the death of neuroglial cells like the oligodendrocytes and astrocytes. Astrocytes in normal conditions regulate the composition of the blood-barrier in the central nervous system; The olygodendorocytes form the myelin sheath that covers the axons and facilitate the effective propagation of action terminals from the neuron to the target cells (Amerman 390). This disorder (what disorder) is caused by a mutation in the ABCD1 gene of the X-chromosome, it causes the demyelination of the neurons in the CNS inhibiting the integration of the information from sensory stimuli and the proper response to them, causing eventually death. X-linked disorders are present are a wide variety of phenotypes, CCALD is the most common and presents only on boys between the age of 4 and 12. CCALD is a rapidly progressive disease, its deteriorates the patient health in a matter of years, and due to its complexity, its commonly misdiagnosed (Engelen).

DIAGNOSTIC CRITERIA: Prenatal onset of marked growth deficiency, microcephaly with secondary premature synostosis. Receding forehead, prominent nose micrognathia low set ears malformed ears with the lack of lobule down slanting palpebral fissures. Clinodactyly of fifth finger

(i) The fragile X syndrome (FXS, MIM 309550). It is an X-linked dominant disorder with early onset, with diminished penetrance and prevailing cause of inherited mental retardation (Garber et al., 2008). Other disabilities appear sometimes associated, like intellectual and emotional issues, mood instability, learning difficulties and autism. Furthermore, specific characteristic phenotypical features may coexist, like macroorchidism, elongated face and uncommon hyperextensibility of fingers.