• More important, the above-referred immune abnormalities do not explain the facial, skeletal, joint, and dental defects in AD HIES. (medscape.com)
  • affected children have muscle weakness but not skeletal abnormalities, and they may live well into adulthood. (ssa.gov)
  • We saw some pretty severe skeletal abnormalities that included both cranio-facial and spinal deformities. (sciencedaily.com)
  • Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities. (nih.gov)
  • Skeletal abnormalities may include a curved spine, unusual prominence of the breastbone (pigeon chest), short stature, and narrowing of the spinal canal. (nih.gov)
  • Mucopolysaccharidosis Type I is a disorder causing failure to thrive, facial and other skeletal abnormalities, tremors, and clouding of the eyes. (wisdompanel.com)
  • Tufts University biologists, and colleagues, have discovered the bioelectric mechanism by which the rare genetic disorder Andersen-Tawil syndrome (ATS) causes facial abnormalities, a finding that could lead to preventive measures and treatments, not only for ATS, but also for a host of other disorders, from birth defects to cancer. (bioquicknews.com)
  • A jaw abnormality is a disorder in the formation, shape and/or size of the jaw. (wikipedia.org)
  • Apert syndrome is a rare genetic disorder that causes a fetus' facial and skull bones to fuse together too early in its development. (medicalnewstoday.com)
  • TMJ syndrome, which is also sometimes called TMJ disorder, results from pressure on the facial nerves due to muscle tension or abnormalities of the bones in the area of the hinge joint between the lower jaw and the temporal bone. (encyclopedia.com)
  • Abstract Noonan syndrome is an inherited disorder of cell growth affecting both males and females and characterized by distinctive facial features, short stature, heart defects, bleeding problems, chest wall abnormalities, and other signs and symptoms. (bartleby.com)
  • This disorder is characterized by developmental delay, mild intellectual disability, neurobehavioral issues such as autism spectrum disorder, seizures and other neurological findings including tone, gait and cerebellar abnormalities. (bvsalud.org)
  • Surgical treatment of facial asymmetry associated with hemimandibular elongation: case report. (bvsalud.org)
  • Condylar hyperplasia or condylar hyperactivity is a pathological overgrowth condition at the condylar process, which leads to variable abnormal facial asymmetry. (bvsalud.org)
  • For example, nerve diseases like trigeminal neuralgia or Bell's palsy sometimes cause facial pain, spasms and trouble with eye or facial movement. (medlineplus.gov)
  • On his return, right peripheral facial nerve palsy was present on physical examination. (cdc.gov)
  • Facial palsy can result in lack of blinking and resultant dry cornea which can lead to corneal scarring. (chargesyndrome.org)
  • Significant vision problems combined with facial palsy, deafness, and inability to communicate may result in autistic-like behavior. (chargesyndrome.org)
  • MRS may be characterized by three main features: recurrent facial nerve palsy, episodes of swelling of the face and lips, and fissuring of the tongue (formation of deep grooves). (nih.gov)
  • RESULTS: We studied 9 subjects with congenital malformations, including preauricular tags and hypospadias, growth abnormalities, and developmental delay who had de novo heterozygous PHF5A variants, including 4 loss-of-function (LOF), 3 missense, 1 splice, and 1 start-loss variant. (bvsalud.org)
  • These genital abnormality and they represent 30% data were reconfirmed by the data available of all admissions in hospitals [ 1-4 ]. (who.int)
  • Fetal Alcohol Syndrome (FAS) was first defined in 1973 as a condition characterized by pre- and postnatal growth deficiencies, facial abnormalities, and defects of the central nervous system . (asu.edu)
  • In addition to bilateral ptosis, patients with Miller Fisher syndrome may also have facial diplegia, as well as respiratory and swallowing difficulties. (aao.org)
  • Aarskog Syndrome is a rare disease that is characterized by genetic abnormalities. (home-remedies-for-you.com)
  • Thousands of pregnancies were aborted last year for 'abnormalities' including 500 for Down's syndrome, new figures reveal. (dailymail.co.uk)
  • Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. (nih.gov)
  • Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. (medlineplus.gov)
  • Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Yeung A, Amor D, Savarirayan R. Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. (medscape.com)
  • Apert syndrome causes facial and skull abnormalities, which can lead to visual impairments and dental problems. (medicalnewstoday.com)
  • Apert syndrome can also cause abnormalities in the fingers and toes. (medicalnewstoday.com)
  • People born with Apert syndrome may experience problems with their vision and teeth because of the abnormal shape of the facial and skull bones. (medicalnewstoday.com)
  • Apert syndrome is a birth abnormality caused by a mutation of the FGFR2 gene. (medicalnewstoday.com)
  • To formally diagnose a person with Apert syndrome, a doctor will look for the characteristic bone abnormalities affecting the head, face, hands, and feet. (medicalnewstoday.com)
  • Treacher Collins syndrome is a hereditary condition that causes severe facial abnormalities. (healthline.com)
  • There are several different abnormalities caused by Noonan Syndrome that can affect people. (bartleby.com)
  • Occupational exposures and movement abnormalities among Japanese-American men: the Honolulu-Asia aging study. (cdc.gov)
  • The authors analyzed data on 1,049 men aged 71-93 years (excluding those with prevalent Parkinson's disease and stroke) from the Honolulu Heart Program (1965-1968) and the Honolulu-Asia Aging Study (1991-1999) to determine whether occupational exposures to pesticides , solvents, metals, manganese, and mercury during middle age were associated with 14 movement abnormalities 25 years later. (cdc.gov)
  • Age was positively associated with all movement abnormalities, and cognitive function, body mass index and physical activity were inversely associated with most movement abnormalities. (cdc.gov)
  • In general abnormalities arise within the jaw when there is a disturbance or fault in the fusion of the mandibular processes. (wikipedia.org)
  • Characteristic facial features may include an underdeveloped upper jawbone, a broad nose, an abnormally prominent brow, down-slanting eyelid folds, widely spaced eyes, and large low-set ears. (nih.gov)
  • Mild facial anomalies include hypertelorism, low-set ears, epicanthal folds and macroglossia. (lu.se)
  • It is appropriate to evaluate the genetic status of apparently asymptomatic female relatives (even in the absence of oral, facial, and digital anomalies) to determine if they are at risk for renal disease. (nih.gov)
  • Congenital anomalies of the auricle, for example, should raise suspicion for an associated facial nerve anomaly. (medscape.com)
  • The reader is referred to Embryology and Anomalies of the Facial Nerve and Their Surgical Implications (Sataloff, 1991) for a comprehensive review of the development of the facial nerve and the associated development of the ear. (medscape.com)
  • Ethanol damage to cranial neural crest cells (CNCC) early in embryonic development is responsible for these minor midline abnormalities. (asu.edu)
  • The facial part of the acousticofacial primordium migrates cranial and ventral to end adjacent to the epibranchial placode, which is located on the dorsal and caudal aspect of the first branchial cleft. (medscape.com)
  • The pattern of facial defects that occur as a result of ethanol exposure during development primarily affects the midline of the face, altering morphology of the eyes, nose, and lips. (asu.edu)
  • In turn the maxilla faces the same issues if any abnormalities in size or position were to occur. (wikipedia.org)
  • Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. (orpha.net)
  • An overall narrowing of the forehead, shortened midface, and underdevelopment of the chin also usually accompany these ethanol-induced abnormalities. (asu.edu)
  • Neurogenic ptosis requires careful attention to associated abnormalities in pupillary size and extraocular movements. (aao.org)
  • Pupillary abnormalities (e.g., anisocoria). (hopkinsmedicine.org)
  • A rare syndromic urinary tract malformation characterized by the association of severe voiding dysfunction and inversion of facial expression when the child smiles or cries. (orpha.net)
  • The implications of this relationship suggest that the partial loss of shh during development may also be a mechanistic component of the ethanol-induced apoptosis that results in the facial defects characteristic of FAS. (asu.edu)
  • and characteristic facial features. (nih.gov)
  • As the human skeleton is not visibly perceptible, bone deformity is inferred and evaluated by facial appearance and dentition. (wikipedia.org)
  • It generally gets apparent in early childhood and is distinguished by the triad of low proportional height with delayed bone age, distinctive facial appearance, and delayed speech development. (medicinenet.com)
  • A doctor may perform a skull radiograph or CT scan of the head to determine the nature of the bone abnormalities. (medicalnewstoday.com)
  • ABSTRACT We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. (who.int)
  • Parental interview and family were defined as abnormalities that impede history are often used to validate the cause the normal body functions and reduce life of congenital abnormalities. (who.int)
  • The later amination were carried out to assess the survival or reproduction of the affected in- major congenital abnormalities. (who.int)
  • In some cases patients can have impaired cellular immunity, neurologic and intestinal dysfunction, peculiar facial features, and delayed developmental milestones. (lu.se)
  • Generalized EEG abnormalities typically signify dysfunction of the entire brain, although such dysfunction may not be symmetric in distribution. (medscape.com)
  • Three days later, the patient presented with bilateral facial weakness and proximal muscle strength worsened. (bvsalud.org)
  • The assessment of facial form includes the evaluation of facial soft tissue and dentition. (wikipedia.org)
  • The anatomy and embryology of the facial nerve are complex. (medscape.com)
  • The objective of this article is to outline the embryology of the facial nerve and its common clinical implications. (medscape.com)
  • The surgical anatomy and landmarks of the facial nerve. (medscape.com)
  • Schematic illustration shows the facial nerve and its peripheral connections. (medscape.com)
  • While studying the embryology of the facial nerve, keep in mind the mature course and structure that is the end result of developmental events. (medscape.com)
  • The motor nucleus of the facial nerve is located in the reticular formation of the caudal pons. (medscape.com)
  • After exiting the internal auditory canal, the facial nerve enters the middle ear, where it bends posteriorly (first, or medial, genu) and courses horizontally through the middle ear. (medscape.com)
  • Just anterior to the lateral aspect of the horizontal semicircular canal, the facial nerve curves gently (the second genu) to form the vertical, or mastoid, segment that exits via the stylomastoid foramen. (medscape.com)
  • By the end of the fourth week of gestation (4.8-6.5 mm CRL), the facial nerve splits into 2 parts: the caudal and rostral trunks. (medscape.com)
  • Although the intensity, duration, and timing of prenatal ethanol exposure can have dramatic effects on the manifestation of these abnormalities, the general trend is that as exposure to ethanol increases, the expression of abnormal facial traits increases. (asu.edu)
  • Higher exposure to any metal, and specifically mercury, was associated with abnormal facial expression. (cdc.gov)
  • Birth defects which have been documented following isotretinoin capsules exposure include abnormalities of the face, eyes, ears, skull, central nervous system, cardiovascular system, and thymus and parathyroid glands. (nih.gov)
  • The effects of ethanol exposure on mouse and chick embryos have been studied extensively to determine the developmental series of events responsible for these facial abnormalities. (asu.edu)
  • Early exposure of these cells to ethanol results in a marked decrease in cellular proliferation and survival, primarily through impaired migration and programmed cell death ( apoptosis ) of cells fated to form facial features. (asu.edu)
  • Restricting the expression of the gene shh also triggers the mass apoptosis of CNCC, which results in facial defects along the ventral midline that are similar to those observed as a result of ethanol exposure. (asu.edu)
  • This relationship led to the discovery that administration of shh has the potential to rescue CNCC that had been introduced to alcohol from undergoing apoptosis in chick embryos, thereby avoiding the facial defects associated with prenatal alcohol exposure. (asu.edu)
  • Some of these cells compose the frontonasal process of the developing embryo, which interacts with the ectoderm to differentiate into facial features. (asu.edu)
  • If the Kir2.1 channel malfunctions, it affects how facial features develop in the embryo, among other effects. (bioquicknews.com)
  • These genetic abnormalities cause the physical features and the mental capacities of a person to be severely distorted. (home-remedies-for-you.com)
  • cardio-), facial features (facio-), and the skin and hair (cutaneous). (medlineplus.gov)
  • and the facial features are sometimes described as " coarse . (medlineplus.gov)
  • The company extracts facial features of individuals - including profile shape, eye size and the shape of a nose bridge - and stores them in a database. (techdirt.com)
  • In other words, the claim is that this system could scale up to store facial features of the entire world. (techdirt.com)
  • These defects are generally more pronounced in infants and children, and tend to become less noticeable as growth through adolescence and adulthood alters facial morphology . (asu.edu)
  • A new tool could diagnose a stroke based on abnormalities in a patient's speech ability and facial muscular movements with the accuracy of an emergency room physician - all within minutes from an interaction with a smartphone. (techbriefs.com)
  • The new tool analyzes the presence of stroke among actual emergency room patients with suspicion of stroke by using computational facial motion analysis and natural language processing to identify abnormalities in a patient's face or voice, such as a drooping cheek or slurred speech. (techbriefs.com)
  • The tool diagnoses a stroke based on abnormalities in a person's speech and facial movements. (techbriefs.com)
  • Observe facial and leg movements. (medscape.com)
  • Certain diseases also lead to facial disorders. (medlineplus.gov)
  • Complete separation of the facial and acoustic nerves is apparent, and a discrete nervus intermedius develops, making this an important temporal reference point for gestational disorders that affect both systems. (medscape.com)
  • Other neurologic symptoms, such as weakness and sensory abnormalities, should be sought, noting whether these are intermittent or constant. (msdmanuals.com)
  • Based on the simulated behavioral patterns exhibited by people in emergencies, the system is designed to detect any abnormalities in the behavior of congested public places. (techdirt.com)
  • A neurological examination disclosed asymmetric proximal weakness, diminished reflexes and no sensitive abnormalities. (bvsalud.org)
  • The peculiar facial dysmorphism is related to an unusual inversion of facial expression that occurs when the child smiles or cries. (orpha.net)
  • In many cases TMJ results from a combination of psychological, anatomical, and functional factors rather than a single abnormality. (encyclopedia.com)