Homepage Rare diseases Search Search for a rare disease Cardiospondylocarpofacial syndrome Disease definition Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony [orpha.net]

stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). [malacards.org]

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]

Kind regards Saskia Community External News Link Clinical Trials CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. [rareshare.org]

Hypokalemic Periodic Paralysis September 27, 2018 by Peter Ciszewski Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia). [checkrare.com]

Symptoms of autonomic neuropathy There may be a great many symptoms because the autonomic nervous system controls a great number of functions, eg blood pressure falls when you can't stand up too much or too little sweating poor temperature control, flushing [drmyhill.co.uk]

This can be due to a fall onto an outstretched hand causing a sprain or fracture of the wrist, or due to a forceful movement involving heavy lifting or a gripping force through the wrist. [physioadvisor.com.au]

Educating family members and allied health personnel (ie, home health aides, visiting nurses) on fall risks in older adults with CSM at the time of physiatric consultation is essential. [now.aapmr.org]

congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006 ). [mendelian.co]

dextrocardia NOS (Q24.0) laevocardia (Q24.1) Q89.4 Conjoined twins Craniopagus Dicephaly Double monster Pygopagus Thoracopagus Q89.7 Multiple congenital malformations, not elsewhere classified Monster NOS Multiple congenital: anomalies NOS deformities [embryology.med.unsw.edu.au]

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]

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]

ORPHA:3238 Synonym(s): Forney syndrome Forney-Robinson-Pascoe syndrome Mitral regurgitation-deafness-skeletal anomalies syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: All ages ICD-10: - OMIM: 157800 UMLS: C1834818 C2931461 MeSH: - [orpha.net]

MalaCards based summary : Cardiospondylocarpofacial Syndrome, also known as mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones, is related to sensorineural hearing loss and deafness, autosomal recessive [malacards.org]

[…] autoimmune diseases Anticonvulsant drugs Antidepressants Antidiabetic drugs Antiemetics Antifungals Antihistamines Antiphospholipid syndrome Antiplatelet agents Antipsychotics Antithyroid drugs Antiviral agents Anxiety disorders Aortic dissection Aortic regurgitation [amboss.com]

Affiliated tissues include bone, heart and kidney, and related phenotypes are short palm and abnormal form of the vertebral bodies OMIM : 57 Cardiospondylocarpofacial syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly [malacards.org]

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]

Cardiospondylocarpofacial (CSCF) syndrome is 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 [ncbi.nlm.nih.gov]

The skeletal dysplasias The skeletal dysplasias are disorders associated with a generalized abnormality in the skeleton. [nature.com]

Identifying the molecular basis of osteochondrodyplasias, studying large cohort of patients clinically well characterized through the reference center for skeletal dysplasia. 2. [institutimagine.org]

Other skeletal dysplasia may be grouped according to whether they affect the metaphysis or the epiphysis of a long bone. Identification of genetic mutations has allowed molecular typing. [musculoskeletalkey.com]

Larsen’s syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies. J Pediatr. 1971;78(2):291–8. View Article PubMed Google Scholar Johnston 2nd CE, Birch JG, Daniels JL. [bmcmedgenet.biomedcentral.com]

Expertise, Disease and Conditions: Brain Tumors, Chiari Malformations, Epilepsy Surgery, Hydrocephalus, Intramedullary Spinal Cord Tumors, Lipoma, Myelomeningocele, Neurological Surgery, Pediatric Spinal Deformity, Scoliosis, Skeletal Dysplasias, Spina [hopkinsmedicine.org]

Esophagitis, gastritis, gastroenteritis - Gastric ulcer, duodenal ulcer - cholecystitis - Constipation, diarrhea - Irritable bowel syndrome (IBS) - Ulcerative colitis and Crohn s disease - Diseases of the musculoskeletal system - Myofascial pain syndromes - Arthralgia [akuyagi.ch]

Arthralgia for 3 months in 4 joints. Minor criteria Beighton score of 1, 2, or 3 out of 9 (or 0, 1, 2, or 3 if 50 years of age). Arthralgia in 1 to 3 joints or back pain, spondylosis, or spondylolysis/spondylolisthesis. [rheumatologyadvisor.com]

Apoplexy Hemorrhoids Polymyositis/Dermatomyositis Appetite, None Hepatitis, Acute Polyneuritis Appetite, Poor Hepatitis, Chronic Polyuria Appetite, Reduced Hepatitis, Viral Post-Concussion Syndrome Arteriosclerosis Hepatitis A Post-Stroke Paralysis Arthralgia [americandragon.com]

Arthralgia 42. Asymmetrical hearing loss 43. Ataxic sensory neuropathy 44. Atraumatic spontaneous hemarthrosis 45. Atrioventricular block 46. Back pain without radiculitis 47. Bannwarth’s Syndrome 48. Behcet's disease 49. Bell’s Palsy 50. [stickerbowandtherose.com]

[…] neck Dystonia Microcephaly Joint stiffness Bulbous nose Low-set ears Proteinuria Attention deficit hyperactivity disorder Small for gestational age Elevated serum creatine phosphokinase Irritability Depressivity Craniosynostosis Osteoporosis Glaucoma Arthralgia [mendelian.co]

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]

Manual Therapy for Musculoskeletal Pain Syndromes; Elsevier, 2016 6.0 6.1 6.2 Lindgren K. Thoracic outlet syndrome. International Musculoskeletal Medicine. March 2010;32(1):17-24. Accessed November 2, 2011. 7.0 7.1 Boezaart, AP, et al. [physio-pedia.com]

Choose the Conditions – (A-Z) Sports Physiotherapy Ankle ligament sprain Gastrocnemius Tear Dislocation Ligament instability / Injury Sports injuries Sprain Stress fracture Subluxation Muscle strain / muscle tear Lateral epicondylitis Piriformis syndrome [spectrumphysio.info]

Tan diagnosed cervical strain, nerve root irritation, muscle strain, no median carpal tunnel syndrome and no neuropathy or brachial plexopathy. On July 24, 1995 Dr. Thomas E. [dol.gov]

[…] facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. [mendelian.co]

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]

Impairment Noonan Syndrome Noonan Syndrome 3 Noonan Syndrome, LEOPARD Syndrome Normal Tension Glaucoma Norrie Disease Nucleoside Phosphorylase Deficiency Obesity, Hyperphagia, and Developmental Delay Obesity, Severe Obesity, Morbid, with Hypogonadism [sequencing.com]

Congenital hearing impairment (sensorineural, conductive, or mixed). Follicular hyperkeratosis. Muscle atrophy. Bladder diverticula. [patient.info]

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]

nose Sparse hair Abnormality of the dentition Abnormality of cardiovascular system morphology Congestive heart failure Myopathy Developmental regression Low-set, posteriorly rotated ears Polyhydramnios Constipation Gastroesophageal reflux High forehead [mendelian.co]

The facial dysmorphism included a square face, upward slanting eyebrows, short nose, very short philtrum, narrow mouth, and a large, prognathic chin. [jmg.bmj.com]

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]

[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 Eruptions Paralysis, Traumatic Acute Laryngitis Genital Warts Paraplegia Acute Leukemia Gerd Paraplegia, Traumatic Acute Pancreatitis Gingivitis Parasites Acute Pharyngitis Glaucoma 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]

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]

Peripheral Neuropathies including Guillain-Barre Syndrome 12. Neuromuscular diseases 13. Tumors of the Nervous System 14. [services.vydya.com]

Conditions and Treatments periodic limb movement disorder, syringomyelia, speech disorder, REM behavior disorder, blepharospasm, traumatic brain injury, dementia, sleep related movement disorder, abnormal gait, neuropathy, peripheral neuropathy, spinal [nyulangone.org]

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]

[…] tumor, Guillain Barré syndrome, attention deficit hyperactivity disorder, abnormal sensation, carpal tunnel syndrome, cognitive impairment, sciatica, cerebral palsy, familial dysautonomia, lower back pain, hemifacial spasm, back injury, meningioma, dystonia [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]

Dystonia 2. Tremors 3. Parkinson Disease and related disorders 4. Spinocerebellar ataxias ALS and Other Motor Neuron Diseases : ENMG and conduction studies are used to reach a definitive diagnosis in these patients. 1. [services.vydya.com]

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]