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Cardio-Spondylo-Carpo-Facial Syndrome

Cardiospondylocarpofacial Syndrome


Presentation

  • Acronym CSCF Synonyms Forney Robinson Pascoe syndrome Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones Any medical or genetic information present in this entry is provided for research, educational[uniprot.org]
  • Each topic is presented in a concise, focused, and well-illustrated format featuring a description of the condition, discussion of symptoms, examination findings, functional limitations, and diagnostic testing.[books.google.com]
  • Presently, both patients present with normal psychomotor development. Additional abnormal findings include extra oral frenulum, nasal speech, and vesico-ureteral reflux.[ncbi.nlm.nih.gov]
  • Presentation Most types of EDS present with symptoms affecting skin and joints. However, many systems can be affected.[patient.info]
  • Kovacs presents a number of case studies in this article.[chiro-trust.org]
Fatigue
  • Glean the latest information on hot topics in the field such as cancer-related fatigue, polytrauma, and traumatic brain injury Efficiently and expertly implement new ICD-10 codes in a busy outpatient setting.[books.google.com]
  • It is important to avoid fatiguing the recovering muscles so a submaximal exercise program is best. A guide to intensity is that you should experience full recovery from exercise within 24 hours.[sitandbefit.org]
  • There is some symptom overlap with fibromyalgia and chronic fatigue syndrome . The first presentation, at birth, may be premature rupture of the membranes.[patient.info]
  • , Chronic Polyneuritis Appetite, Poor Hepatitis A Polyuria Appetite, Reduced Hepatitis C Post-Concussion Syndrome Arteriosclerosis Hepatitis E Post-Stroke Paralysis Arthralgia Hernia Post-Traumatic Stress Disorder Arthritis Hernia, Hiatus Post-Viral Fatigue[americandragon.com]
  • Traumatology and Reumatology Herniated Disc, arthritis, rheumatic fever, fibromyalgia, chronic fatigue syndrome, multiple sclerosis, back pain, sciatic pain, periarthritis, carpal tunnel syndrome, osteoarthritis, osteomyelitis, spinal osteochondrosis,[clinicafiorela.com]
Short Stature
  • Anderson CE, Bocian ME, Walker AP, Lachman R, Rimoin DL (1982) A syndrome of short stature, joint laxity and developmental delay. Clin Genet 22: 40–46 PubMed Google Scholar 6.[link.springer.com]
  • , Prognathism and Short stature) syndrome.[jmg.bmj.com]
  • In all patients, FISH analysis showed loss of one copy of the Short Stature Homeobox (SHOX)-containing gene. Ten patients had short stature and one disproportionate (mesomelic) normal stature, while the last one had normal stature.[4h4.tantalize.us]
  • Most individuals with disproportionate short stature have skeletal dysplasias, and those with proportionate short stature have endocrine, nutritional, or other genetic or teratogenic disorders, although there are exceptions to this generalization.[nature.com]
  • Short stature may be defined as Disproportion of short stature may arise from the limbs, referred to as micromelia (Greek µικροζ: “small” and µελοζ: “limb”). Disproportionate shortening of the “trunk” is known as microcormia (Greek κορµοζ) [A].[musculoskeletalkey.com]
Disability
  • Practical, clinically relevant material facilitates the diagnosis and treatment of musculoskeletal, pain, and chronic disabling conditions.[books.google.com]
  • Rehab Golf Rehabilitation Paediatric Rehabilitation Cerebral Palsy Delayed Milestone Brachial Plexus Muscular Dystrophy Post Surgical Rehabilitation Fracture Rehabilitation Knee Replacement Rehabilitation Hip Replacement Rehabilitation Robotics For Hand Disability[physioline.in]
  • A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J . 1978 Jan. 15(1):56-62. [Medline] . Ryan AK, Goodship JA, Wilson DI, et al.[emedicine.medscape.com]
  • Some genetic information may have implications for your options for insurance cover such as life, income protection, disability, trauma, business and insurance relating to bank loans.[geneticalliance.org.au]
  • Jaren Wicklund/Fotolia Intellectual disability Intellectual disability is characterized by incomplete or insufficient general development of mental capacity, causing a delay in the normal development of motor, language, and social skills.[britannica.com]
Physician
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.com]
  • ChenLiHua Chen Lihua, Deputy Chief Physician.[mytcmhealth.com]
  • Our specialties are briefly described below, however feel free to have your physician contact us on your specific situation or symptoms. Conditions Treated All musculoskeletal injuries & dysfunction's as well as physical therapy & rehabilitation.[chiroptnj.com]
  • […] disc Cervical disorders Spondylosis Backache and Sciatica Degenerative spine disorders Other Neurology Treatments at Fortis Bangalore Expert evaluation of spinal problems by a dedicated team of experienced Spine Surgeons, Rheumatologists, Neurologists, Physicians[fortisbangalore.com]
  • Feel free to have your physician contact us to see how we can help achieve healing, relieve pain, restore motion, or for any questions about how physical therapy can address your specific situation or symptoms.[ateamapproachpt.com]
Short Finger
  • fingers, reduced joint mobility, short stature, and muscular build with or without mental retardation have been delineated during the past 30 years: Moore-Federman syndrome, Myhre syndrome, acromicric dysplasia, geleophysic dysplasia, GOMBO syndrome,[jmg.bmj.com]
Nasal Pain
  • Abdominal Emptiness Frozen Shoulder Pain, Heel Abdominal Fullness and Distention Functional Uterine Bleeding Pain, Joint Abdominal Heat Fungal Infections * Pain, Knee Abdominal Heaviness Furuncles Pain, Lower Abdominal Abdominal Hyperfunction Furuncles, Nasal[americandragon.com]
Lacrimation
  • Menstruation Cancer, Throat Keratomalacia Scanty Urination Cancer, Thyroid Kidney Failure Scapulohumeral Periarthritis Cancer, Uterine Kidney Stones Schizophrenia Cancerous Ascites Knee Pain Sciatica Candidiasis Labyrinthitis Scleroderma Cardiac Arrhythmia Lacrimation[americandragon.com]
  • […] symptoms are exacerbated by heel inversion/eversion; treated by non-steroidal anti-inflammatory drugs, local immobilization, orthoses or steroid injection SjÖgren's syndrome; sicca syndrome; keratoconjunctivitis sicca oral mucous membranes dryness, loss of lacrimal[medical-dictionary.thefreedictionary.com]
  • […] lain H.90-91 GANGGUAN DAYA DENGAR Penyakit lain H00.0 HORDEOLUM Penyakit lain H02.0 ENTROPION DAN TRICHIASIS Penyakit lain H02.1 ECTROPION Penyakit lain H02.4 PTOSIS Penyakit lain H02.6 XANTHELASMA Penyakit lain H03 EYELID DISORDER Penyakit lain H04 LACRIMAL[docslide.com.br]
Hearing Problem
  • Hearing problems - may cause tinnitus, hearing loss. Balance problems - may cause unsteadiness, vertigo, nausea. These symptoms can indicate other disease processes, not just peripheral neuropathy.[drmyhill.co.uk]
Neck Pain
  • Pinterest 14 Pins 19 Followers Health Massage therapy Hand therapy Medicine Physical therapist Neck exercises Neck pain Occupational therapy Physical therapy shoulder Acupressure Alternative medicine Anatomy study Arm bones Athletic trainer Athletic training[pinterest.co.uk]
  • Treatment of neck pain: noninvasive interventions: results of the bone and joint decade 2000-2010 task force on neck pain and its associated disorders. Spine . 2008;33(4 Suppl):S123-S152. Catz, A., Itzkovich, M., et al.[now.aapmr.org]
  • Jaw Pain Neck Pain Spine Health Spinal Stenosis Aging Process Pain Relief Healthy Disorders Surgery Forward The aging process can affect your cervical spine.[pinterest.at]
  • Headaches/neck pain due to eye strain. Pre and Post natal back pain and exercise routines Increase of pulmo capacity through exercise.[chiroptnj.com]
  • Non-operative treatment of backache and neck pain with a structured Spinal Rehabilitation Neurologists and Neuro Surgeons[fortisbangalore.com]
Shoulder Pain
  • Shoulder Injuries Shoulder Tendonitis Shoulder Injury Symptoms Bicep Tendonitis Rotator Cuff Tear Shoulder Anatomy Shoulder Pain At Night Shoulder Pain Relief Painful Shoulder Forward A rotator cuff tear can result in nearly constant shoulder pain, even[pinterest.de]
  • Medical Team Certifications & Standards Offers & Concession Treatments Neurological Rehabilitation Stroke Facial / Bell’s Palsy Spinal Cord Injury Parkinson’s Disease Multiple Sclerosis Pain Rehabilitation Back Pain Knee Pain / Arthritis Pain Neck Pain Shoulder[physioline.in]
  • […] many are approved.Treating the Patient with Hemiplegic Shoulder Pain Google Search Pilates Set The Name You Want To See Pharmacy Forward El conjunto de huesos y cartílagos: forma el esqueleto.[pinterest.ch]
  • Neck pain Occupational therapy Physical therapy shoulder Acupressure Alternative medicine Anatomy study Arm bones Athletic trainer Athletic training Body anatomy Body scrub Body waxing Bones in the arm Brain anatomy Rib Pain Neck And Back Pain Neck And Shoulder[pinterest.co.uk]
  • Abdominal Blockage Fibromyoma Pain, Calcaneus Abdominal Cold Forgetfulness Pain, Elbow Abdominal Cramps Frequent Urination Pain, Hand Abdominal Emptiness Frozen Shoulder Pain, Heel Abdominal Fullness and Distention Functional Uterine Bleeding Pain, Joint[americandragon.com]
Brachydactyly
  • Definition A syndrome characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner[uniprot.org]
  • , Type A1 Brachydactyly, Type A2 Brachydactyly, Type B1 Brachydactyly, Type C Brachydactyly, Type E Brachydactyly, Type D Butyrylcholinesterase Deficiency Butyrylcholinesterase Deficiency, Fluoride-resistant, Japanese Type C (Opitz Trigonocephaly) Syndrome[sequencing.com]
  • Delayed and irregular epiphysial formation leads to long bone deformity, in particular coxa vara, genua vara or valga, and brachydactyly as well as premature osteoarthritis.[musculoskeletalkey.com]
  • Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly.[patient.info]
Musculoskeletal Pain
  • Practical, clinically relevant material facilitates the diagnosis and treatment of musculoskeletal, pain, and chronic disabling conditions.[books.google.com]
  • The main presenting features of hEDS are joint hypermobility, stretchy (although not fragile) skin, fatigue and musculoskeletal pain, with a positive family history.[patient.info]
  • pain syndrome see polymyalgia rheumatica nail-patella syndrome; hereditary arthrodysplasia autosomal-dominant abnormality of finger/toenails, absent/hypoplastic patella, defects of head of radius and iliac horns, and iris discoloration nephrotic syndrome[medical-dictionary.thefreedictionary.com]
Hip Pain
  • Concession Treatments Neurological Rehabilitation Stroke Facial / Bell’s Palsy Spinal Cord Injury Parkinson’s Disease Multiple Sclerosis Pain Rehabilitation Back Pain Knee Pain / Arthritis Pain Neck Pain Shoulder Pain Heel Pain Ankle Pain Elbow Pain Hip[physioline.in]
  • pain, Knee pain, Bursitis, Shin pain, Bursitis, Leg cramps, Restless legs syndrome; Sciatica, Trigeminal neuralgia, Post herpetic neuralgia; Sports inj uries, Sprains & Strains, Osteomyelitis, Bone cysts, Toothache, Lupus , Gout, Piles (H a emorrhoids[drpingping.co.uk]
Stroke
  • Get a broader perspective on your field from new chapters on Labral Tears of the Shoulder and Hip, Pubalgia, Chondral Injuries, Central Post-Stroke Pain (Thalamic Pain Syndrome) , Chemotherapy-induced Peripheral Neuropathy, Radiation Fibrosis Syndrome[books.google.com]
  • This edition includes new guidelines for advanced cardiac life support (ACLS) and new information on disaster medicine and terrorism preparedness, thrombolytic therapy for stroke and heart attack, and alternative therapies.[books.google.com]
  • [TIA (mini- stroke), embolic stroke, hemodynamic stroke], Subarachnoid hemorrhage, Carotid Stenosis; Angina (chest pains), Heart attack, Hyperlipidemia (high cholesterol), Hypercholesterolemia, Atherosclerosis, Rheumatic heart disease, Aortic valve disease[drpingping.co.uk]
  • Acute Ischemic Stroke Genital Warts Paralysis, Traumatic Acute Laryngitis Gerd Paraplegia Acute Leukemia Gingivitis Paraplegia, Traumatic Acute Pancreatitis Glaucoma Parasites Acute Pharyngitis Globus Hystericus Paresthesia Acute Thrombocytic Phlebitis[americandragon.com]
  • Neurology Treatments at Fortis Bangalore We offer treatments, consultation and inpatient services for: Headaches, Epilepsy, Stroke or Paralysis, Backache, Slipped Disc Movement disorders such as Parkinson ’s disease Paediatric neurologic disorders such[fortisbangalore.com]
Peripheral Neuropathy
  • Get a broader perspective on your field from new chapters on Labral Tears of the Shoulder and Hip, Pubalgia, Chondral Injuries, Central Post-Stroke Pain (Thalamic Pain Syndrome) , Chemotherapy-induced Peripheral Neuropathy, Radiation Fibrosis Syndrome[books.google.com]
  • These symptoms can indicate other disease processes, not just peripheral neuropathy. Symptoms of motor peripheral neuropathy The motor nerves drive muscles, so there will be muscle weakness.[drmyhill.co.uk]
  • neuropathy, brachial plexus injury, essential tremor, aphasia, pseudotumor cerebri, Arnold Chiari malformation, Bell's palsy, abnormal sensation, brain bleeding, cerebral palsy, arteriovenous malformation, back injury, atrial fibrillation, Guillain Barré[nyulangone.org]
  • neuropathy Peripheral neuropathy is the term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of the nerve or from the side-effects of systemic illness.[ilmudokter-aurora.blogspot.com]
Dystonia
  • Stay current with expanded and updated coverage of diagnosis, management and rehabilitation of Cervical Dystonia, Suprascapular Neuropathy, Epicondylitis, Temporomandibular Joint Pain, Spinal Cord Injury, Stroke, Adhesive Capsulitis of the Hip, and Adductor[books.google.com]
  • , dystonia, neuropathy, carpal tunnel syndrome, muscle disease, Tourette syndrome, syrinx, apraxia, dementia, aortic dissection, compression injury of nerve, sleep-related movement disorder, myasthenia gravis (MG), spinal neurofibromas, unspecified brain[nyulangone.org]
  • Headaches, Epilepsy, Stroke or Paralysis, Backache, Slipped Disc Movement disorders such as Parkinson ’s disease Paediatric neurologic disorders such as mental retardation and behavioural disorders Botolinum toxin injection for spasticity, task specific dystonias[fortisbangalore.com]
  • 12 Dystonia, Adult-onset Dystonia, Dopa-responsive Dystonia, Torsion Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Cardiac Valvular Form Ehlers-Danlos Syndrome, Hypermobility Type Ehlers-Danlos Syndrome, Progeroid Form Ehlers-Danlos Syndrome, Spondylocheiro[sequencing.com]
  • Focal dystonias include writer’s cramp, orofaciomandibular dystonia, and torticollis. Tics are similar to dystonia, but they consist of brief movements or utterances of unknown cause.[britannica.com]
Thalamic Pain
  • Get a broader perspective on your field from new chapters on Labral Tears of the Shoulder and Hip, Pubalgia, Chondral Injuries, Central Post-Stroke Pain (Thalamic Pain Syndrome) , Chemotherapy-induced Peripheral Neuropathy, Radiation Fibrosis Syndrome[books.google.com]

Workup

  • SOB Myocarditis, commonly caused by Coxsackie B virus Can develop dilated cardiomyopathy Well defined plaques with silvery scale on extensor surfaces Pancreatic cancer until proven otherwise Initial screening for patient with new A-fib Hyperthyroidism workup[quizlet.com]
  • Atlantoid assimilation Occipital dysplasia Basilar coarction Occipital vertebrae Condylar hypoplasia Lower Cervical Cervical rib Fusion failure (eg, spina Failure of segmentation bifida, spondylolisthesis) (eg, Klippel-Feil syndrome) BASIC LABORATORY WORKUP[chiro.org]

Treatment

  • Practical, clinically relevant material facilitates the diagnosis and treatment of musculoskeletal, pain, and chronic disabling conditions.[books.google.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • ZhangWei Zhang Wei, Deputy Chief Physician, Master of Medicine, good at stomach pain, diarrhea, constipation and other spleen and stomach disease treatment, gallstones treatment, acupoint sticking treatment of constipation etc.[mytcmhealth.com]
  • Nadezhda Ivanisova Here you can find the cost of treatment for this disease at the German University Hospitals. Leave a request and we will provide a free consultation with a doctor and will start organizing the whole treatment process.[bookinghealth.com]

Prognosis

  • The favourable prognosis presupposes the regress of symptoms. Stable angina is diagnosed when a month has passed and the attacks are repeated.[bookinghealth.com]
  • […] of astrocytomas Depends on tumor grade Worse prognosis: increased atypia, mitoses, neovascularity, necrosis or other anaplastic signs Glioblastoma multiforme is a grade IV astrocytoma and has the worst prognosis Monoclonal antibody for CLL Rituximab[quizlet.com]
  • Prognosis in the Ehlers Danlos syndromes [ 7 ] Prognosis will vary with the type and the severity. Lifespan is usually normal, with the exception of the vascular type.[patient.info]
  • This is considered to be a storage disease with progressive worsening and a poor prognosis.[jmg.bmj.com]
  • Aujesky, Universitätsklinik für Allgemeine Innere Medizin, Kompetenzbereich für Allgemeine Innere Medizin Prediction of short-term prognosis in elderly patients with acute pulmonary embolism: validation of the RIETE score 12.12.2018, Dr. med.[studmed.unibe.ch]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • […] pronounced in the upper extremities Localized deficit in pain and temp sensation Elderly patient with hyperextension Central cord syndrome Very common in elderly patients with spondylosis Bilateral spastic motor paresis distal to spinal cord lesion name and etiology[quizlet.com]
  • Table 1 shows the etiological factors for the development of TOS.[omicsonline.org]
  • ETIOLOGIC PICTURE See Table 5.11. Table 5.11.[chiro.org]
  • Medianus 10 tendon fleksor Jaringan ikat, lymphe, vasa nervorum PATOFISIOLOGI Berkurangnya ukuran terowongan carpal ETIOLOGI 1.Idiopatik 2.Keadaan yg menyebabkan tekanan/kompresi n. medianus : STK Akut biasanya ok trauma (fraktur/ dislokasi) wrist , infeksi[ilmudokter-aurora.blogspot.com]

Epidemiology

  • Epidemiology Frequency United States The prevalence of velocardiofacial syndrome in the United States is approximately 1:2,000. [7] International Velocardiofacial syndrome occurs in 1 per 4000 births worldwide, according to estimates.[emedicine.medscape.com]
  • Congenital spinal stenosis is associated with short pedicles and bony anomalies of the lateral masses and laminae. 2 Epidemiology including risk factors and primary prevention Cervical spondylosis is a frequent finding in asymptomatic adults with prevalence[now.aapmr.org]
  • (Samuel, De Jong 1979, Mumenthaler 1984) Epidemiologi STK neuropati jebakan yang paling sering dijumpai unilateral pd 42% kasus, bilateral 58% kasus 12 kasus per 100.000 orang / tahun ,terbanyak antara 55-65 tahun (Rochester, Minnesota tahun 1976-1980[ilmudokter-aurora.blogspot.com]
  • Epidemiology of Ehlers-Danlos syndromes [ 4 ] Prevalence of EDS is usually quoted as about 1/5,000 for all types, with hEDS hypermobility type accounting for about half of all registered cases: however, hEDS is an underdiagnosed condition; a frequency[patient.info]
  • […] bruising of skin Diagnosis of secondary amyloidosis abdominal fat pad aspiration biopsy Treatment of secondary amyloidosis treat underlying condition Give colchicine for prevention Radiograph finding of cervical spondylosis and explanation of symptoms/epidemiology[quizlet.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology This congenital disorder is caused by a deletion (microdeletion) at the q11.2 band, which is located on the long arm (q) of chromosome 22 (see the images below).[emedicine.medscape.com]
  • Osteogenesis imperfecta: epidemiology and pathophysiology . Curr Osteoporos Rep 2007; 5 : 91–97. 57. Sillence DO . Osteogenesis imperfecta nosology and genetics . Ann N Y Acad Sci 1988; 543 : 1–15. 58.[nature.com]

Prevention

  • Develop a thorough, clinically relevant understanding of interventions such as physical agents and therapeutic exercise in the prevention, diagnosis, treatment, and rehabilitation of disorders that produce pain, impairment, and disability.[books.google.com]
  • It tends to happen more often with those using computers or texting / emailing from their phone a … Carpal Tunnel Syndrome: How to prevent, treat and recover.[pinterest.com.au]
  • Prevents wear and tear of knee cartilage though strengthening of soft tissues around the knee. Helps clear and prevent problems with digestion, including flatulence. Helps to develop balance.[onetigeryoga.com]
  • Early recognition and treatment are crucial in determining the athlete's ability to return to play and preventing the occurrence of outbreaks among team members. Infections Skin infections cause the most disruption to individual and team activities.[sk.sagepub.com]
  • Once the source of your injury or discomfort has been identified, your therapist will instruct you as to how you can help prevent your injury from reoccurring in the future.[raghavphysio.com]

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