Presentation
Presently, both patients present with normal psychomotor development. Additional abnormal findings include extra oral frenulum, nasal speech, and vesico-ureteral reflux. [onlinelibrary.wiley.com]
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]
[…] syndrome Mitral regurgitation-deafness-skeletal anomalies syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: All ages ICD-10: - OMIM: 157800 UMLS: C1834818 C2931461 MeSH: - GARD: 2362 MedDRA: - The documents contained in this web site are presented [orpha.net]
Hematological
- Hemophilia A
A Hemophilia B Hemophilia B, Leyden Hemophilia B, Brandenburg Hemorrhagic Diathesis due to Antithrombin Pittsburgh Heparin Cofactor II Deficiency Hepatic Lipase Deficiency Hereditary Angioedema, Type II Hereditary Haemorrhagic Telangiectasia, Type 2 [sequencing.com]
– Hemophilia is a condition where it takes a long time for the blood to clot. [militarydisabilitymadeeasy.com]
Guillain-Barré syndrome Hashimoto thyroiditis Head and neck examination Headache Health care system Hearing loss Heart Heatstroke Helminth infections Hemochromatosis Hemolytic anemia Hemolytic disease of the fetus and newborn Hemolytic uremic syndrome Hemophilia [amboss.com]
Never receiving recognition from others for our supposed sacrifices ( martyr ) Hematoma - Difficulty in processing a recent blow to one's ego Hemophilia - Family pattern resulting from a fear of retribution. [ourspiritualnutrition.com]
Entire Body System
- Anemia
Complementation Group A Fanconi Anemia, Complementation Group C Fanconi Anemia, Complementation Group D1 Fanconi Anemia, Complementation Group E Fanconi Anemia, Complementation Group J Fanconi Anemia, Complementation Group N Farber Lipogranulomatosis [sequencing.com]
Chronic bronchitis, Bronchiolitis, Bronchiectasis, Emphysema, Chronic obstructive pulmonary disease (COPD), Respiratory distress syndrome, Interstitial lung disease, etc ; Digestive system problems: Eating disorders (anorexia and bulimia), Malnutrition, Anemia [drpingping.co.uk]
Megaloblastic anemia may be related to a vitamin B-12 or folic acid deficiency. Pernicious anemia causes a vitamin B-12 deficiency. There are other potential causes of a burning sensation in different parts of the body. [healthline.com]
Seborrheic dermatitis pellagra dermatitis, diarrhea, dementia death, glossitis cheilosis, stomatitis, glossitis irritability, confusion, depression megaloblastic anemia Fetal neural tube defects Megaloblastic anemia Neurologic deficits in lower extremity [quizlet.com]
Airways and lungs Alcohol use disorder Alcoholic liver disease Alopecia Alport syndrome Alzheimer disease AMBOSS content updates Amebiasis Amino acids Amiodarone Amyloidosis Amyotrophic lateral sclerosis Anal abscess and fistula Anal cancer Anal fissures Anemia [amboss.com]
- Lymphedema
In addition to the left hemiparesis, he noted tenderness and limited motion of the neck and right arm swelling due to lymphedema following breast cancer surgery. Dr. [dol.gov]
Medical Area Diseases Internal Medicine Acute hepatitis C and chronic liver disease, chronic liver disease (hepatitis C and B) hepatic cirrhosis, hypercholesterolemia, lymphedema, colibacillosis, anal eczema, hemorrhoids, proctitis, constipation, ulcerative [clinicafiorela.com]
– Lymphedema is a condition where the lymph vessels that drain fluid from the tissues is blocked. [militarydisabilitymadeeasy.com]
Congestive heart failure Myopathy Developmental regression Low-set, posteriorly rotated ears Polyhydramnios Constipation Gastroesophageal reflux High forehead Abnormal heart morphology Feeding difficulties Ptosis Pectus carinatum Otitis media Proptosis Lymphedema [mendelian.co]
(some days I just can't even if they do) ( can't lift my arm) I also ended up with damage to my upper lymphatic system (along with scar tissue) I have been dx with lymphedema stage 2 arm.chest neck all fill with fluid and blocked by scar tissue. [doctorschierling.com]
- Abdominal Obesity
Good for abdominal obesity. Greatly enhances concentration. Helps with sciatic problems. [onetigeryoga.com]
Skin
- Hyperkeratosis
Palmoplantar keratoderma Bruising susceptibility Abnormality of skin pigmentation Dry skin Peripheral axonal neuropathy Long face Dolichocephaly Abnormality of vision Nephrotic syndrome Abnormality of the eye Telecanthus Hydronephrosis EEG abnormality Hyperkeratosis [mendelian.co]
Follicular hyperkeratosis. Muscle atrophy. Bladder diverticula. [patient.info]
Bullosa, Junctional, Herlitz Type Epidermolysis Bullosa, Junctional, with Pyloric Atresia Epidermolysis Bullosa, Koebner Epidermolysis Bullosa, Lethal Acantholytic Epidermolysis Bullosa, Pretibial Epidermolysis Bullosa, Weber-Cockayne Epidermolytic Hyperkeratosis [sequencing.com]
Cutaneous disease, including striated ichthyosiform hyperkeratosis, whorled pigmentation, cicatricial alopecia, and “orange-peel” skin. Ocular anomalies, including cataracts, nystagmus, and glaucoma. [musculoskeletalkey.com]
- Skin Disease
diseases, in neck nose and throat ailments, eye and skin diseases. [akuyagi.ch]
Sports-related skin disease is quite common with a wide variety of causes. Broadly categorized as infections, dermatitis, or trauma, several skin disorders directly affect sports participation. [sk.sagepub.com]
[…] a wide variety of symptoms Common symptoms include facial flushing, raised, red bumps, facial redness, skin dryness, and skin sensitivity Read full article on rosacea. [healthline.com]
Eyes
- Ectopia Lentis
Differential diagnosis of MFS Familial ectopia lentis syndrome (ELS) Per the revised Ghent nosology, diagnostic criteria for ELS include ectopia lentis and an FBN1 mutation not previously known to cause aortic root dilatation or dissection, or absence [rheumatologyadvisor.com]
In this context, we report a novel cysteine substitution in a patient presenting with typical MFS features but without ectopia lentis. [karger.com]
Ears
- Hearing Impairment
impairment Congenital sensorineural hearing impairment Enlarged vestibular aqueduct syndrome Low-set ears Posteriorly rotated ears Growth abnormality Failure to thrive Short stature IMPORTANT NOTE: NIH does not independently verify information submitted [ncbi.nlm.nih.gov]
[…] facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. [mendelian.co]
Showing of 44 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormal form of the vertebral bodies 0003312 Brachydactyly Short fingers or toes 0001156 Conductive hearing impairment Conductive deafness Conductive hearing [rarediseases.info.nih.gov]
Over 70% of congenital sensorineural hearing impairment is non-syndromic while, about 30% is associated with other defects. [4h4.tantalize.us]
impairment, Otitis media, Otitis externa, Labyrinthitis; Mouth ulcers, Toothache, Gingivitis, Periodontitis, Dental abscesses, Oral thrush, etc; Help with Ophthalmology problems : Glaucoma, Papilledema, Watering eye (Epiphora), Dry eye syndrome, Sjogren [drpingping.co.uk]
Psychiatrical
- Aggressive Behavior
[…] ribs Mucopolysacchariduria Gliosis Asymmetric septal hypertrophy Abnormality of the clavicle Growth abnormality Recurrent upper respiratory tract infections Coarse hair Drooling Generalized hirsutism Abnormality of the ribs Synophrys Difficulty walking Aggressive [mendelian.co]
Face, Head & Neck
- Broad Nasal Bridge
bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal [rarediseases.info.nih.gov]
He had facial dysmorphism with small palpebral fissures, small round ears, a broad nasal bridge, short philtrum, small mouth, marked prognathism, and a short neck. The hands were short with brachydactyly. He had a striking muscular build. [jmg.bmj.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]
Tunnel Syndrome Treatment in and near Los Angeles Carpal Tunnel Syndrome Treatment in and near Ontario Carpal Tunnel Syndrome Treatment in and near Perris Carpal Tunnel Syndrome Treatment in and near Temecula Contact Healthpointe Today! [healthpointe.net]
Ensuring patient safety needs After establishing and discussing the treatment plan for the patient and ensuring no contraindications are present at each session, the Acupuncturist will provide the treatment in the treatment rooms. [skh.com.sg]
Usually 2-3 acupuncture treatments are performed each week, in a series of 10-12 treatments. [akuyagi.ch]
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
Valve-sparing operations appear to associate with lower rates of valve-related complications and better long-term prognosis. [rheumatologyadvisor.com]
The favourable prognosis presupposes the regress of symptoms. Stable angina is diagnosed when a month has passed and the attacks are repeated. [bookinghealth.com]
Prognosis of carpal tunnel syndrome With appropriate management and physiotherapy, most minor cases of carpal tunnel syndrome that have not been present for long can usually recover within a few weeks. [physioadvisor.com.au]
[…] 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]
Mori M, Kuwabara S, Fukutake T, Yuki N, Hattori T (2001) Clinical features and prognosis of Miller Fisher syndrome. Neurology 56: 1104-1106. [omicsonline.org]
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]
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Nov 15. 140(22):2416-25. [Medline]. Sundram F, Murphy DG, Murphy KC. [emedicine.medscape.com]
Epidemiology
Epidemiology of Restless Legs Syndrome. Arch Intern Med. 2001;161(3):483–484. doi: Download citation file: © 2019 New! JAMA Network Open is now accepting submissions. Learn more. [jamanetwork.com]
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]
[…] intracranial pressure and brain herniation Elimination disorders Embryogenesis Emotional and behavioral disorders in children and adolescents Endarterectomy Endometrial cancer Endometriosis Endophthalmitis Environmental injuries Enzymes and biocatalysis Epidemiology [amboss.com]
Epidemiology/Etiology TOS affects approximately 8% of the population and is 3-4 times as frequent In woman as in men between the age of 20 and 50 years. [physio-pedia.com]
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]
Physiology and pathophysiology of the growth plate. Birth Defects Res C Embryo Today 2003; 69 : 123–143. 5. Ballock RT, O'Keefe RJ. The biology of the growth plate. J Bone Joint Surg Am 2003; 85 : 715–726. 6. [nature.com]
Prevention
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]
Beta-blockers have been used for many years to prevent migraine headaches. [va-fairhopehealthfoods.com]
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]
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]