From the New York University Langone Comprehensive Epilepsy Center, New York (O.D.); the University College London Great Ormond… Expand AIM To determine whether exposure to tumour necrosis factor (TNF)-α inhibitors increases the risk of herpes zoster [semanticscholar.org]

Alopecia hypogonadism extrapyramidal disorder Alopecia immunodeficiency Alopecia macular degeneration growth retardation Alopecia mental retardation hypogonadism Alopecia mental retardation syndrome Alopecia universalis onychodystrophy vitiligo Alopecia, epilepsy [mindmappedia.com]

[…] oligophrenia syndrome of Moynahan Alopecia immunodeficiency Alopecia macular degeneration growth retardation Alopecia mental retardation syndrome 1 Alopecia mental retardation syndrome 2 Alopecia universalis onychodystrophy vitiligo Alopecia epilepsy [personalizedcause.com]

[…] oligophrenia syndrome of Moynahan Alopecia, epilepsy, pyorrhea, mental subnormality Alopecia hypogonadism extrapyramidal disorder Alopecia immunodeficiency Alopecia macular degeneration growth retardation Alopecia mental retardation hypogonadism Alopecia [wikiwand.com]

[…] of oropharyngeal muscles Wasting of oropharyngeal muscles Weakness of hand muscles Wasting of hand muscles Causes Conditions listing Arnold Stickler Bourne syndrome as a symptom may also be potential underlying causes of Arnold Stickler Bourne syndrome [checkorphan.org]

To review the differential diagnosis of Muscle weakness and stiffness, click here. To review the differential diagnosis of Muscle weakness and Myoglobinuria, click here. [wikidoc.org]

Thirteen of 54 post–renal‐transplant patients that we examined developed weakness and wasting in the small hand muscles, with or without facial weakness and dysphagia. Tendon reflexes were preserved and sensory examinations were normal. [onlinelibrary.wiley.com]

Symptoms Abnormal voice Abnormal cry Abnormal gait Nystagmus Pharyngeal abnormality Amyotrophy Corneal crystals Muscle agenesis Conductive deafness Expressionless face Abnormal muscle biopsy Myopathy Protein in the urine Renal glomerular defect Speech [checkorphan.org]

Asymmetric weakness Retrovirus (most common) N/A Antibodies to cytoplasmic 5' nucleotidase Inflammatory cells Invading muscle cells Vacuolar degeneration Inclusions or plaques Neurogenic Fibromyalgia[13] 40 50s Generalized Anxiety or depression features Fatigue [wikidoc.org]

[…] swelling Decreased TSH Non specific Myotonic Hypothyroidism[8] 55 Proximal Rhabdomyolysis Signs of hypothyroidism H/o weight gain Myxoedema Muscle pseudohypertrophy Increased TSH Nonspecific Normal Diabetic infraction[9] 45 Proximal Cramps Sudden onset of pain [wikidoc.org]

Symptoms Abnormal voice Abnormal cry Abnormal gait Nystagmus Pharyngeal abnormality Amyotrophy Corneal crystals Muscle agenesis Conductive deafness Expressionless face Abnormal muscle biopsy Myopathy Protein in the urine Renal glomerular defect Speech [checkorphan.org]

Acute Pharyngitis A condition which is characterized by an acute inflammatory reaction of the pharynx Aggressive Fibromatosis (Parapharyngeal Space) A type of tumor that occur near in the space around the pharynx and is locally invasive but not malignant [mt911.com]

Normal Meningeal signs Asymmetrical flaccid paralysis Pharyngeal paralysis Isolation from pharyngealsecretions, CSF Positive serology N/A N/A Neurological pattern Syphilis[23] Variable Negative Chancre Lymphadenopathy Condylomata lata Neuro syphilis Cardiovascular [wikidoc.org]

Abnormal gait Nystagmus Pharyngeal abnormality Amyotrophy Corneal crystals Muscle agenesis Conductive deafness Expressionless face Abnormal muscle biopsy Myopathy Protein in the urine Renal glomerular defect Speech defect Ureteric anomalies Vascular hypertension [checkorphan.org]

Myoglobinuria Other features History Physical Examination Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram Endocrine Cushing's disease[4] 25 45 Proximal Decreased libido Obesity/weight gain Plethora Round face Menstrual changes Hirsutism Hypertension [wikidoc.org]

Adiposis dolorosa, aka Dercum's disease Ado–Adr Adolescent benign focal crisis Adrenal adenoma, familial Adrenal cancer Adrenal disorder Adrenal gland hyperfunction Adrenal gland hypofunction Adrenal hyperplasia Adrenal hyperplasia, congenital Adrenal hypertension [wikiwand.com]

Amegakaryocytic thrombocytopenia Arnold Stickler Bourne syndrome Porphyria cutanea tarda, familial type Pelizaeus Merzbacher disease, recessive, acute infantile Chromosome 21 monosomy Amelia X linked Prosopamnesia Depersonalization disorder Primary pulmonary hypertension [chesapeakehumane.org]

[…] dolorosa, aka Dercum's disease Ado–Adr[edit] Adolescent benign focal crisis Adrenal adenoma, familial Adrenal cancer Adrenal disorder Adrenal gland hyperfunction Adrenal gland hypofunction Adrenal hyperplasia Adrenal hyperplasia, congenital Adrenal hypertension [en.wikipedia.org]

Symptoms Abnormal voice Abnormal cry Abnormal gait Nystagmus Pharyngeal abnormality Amyotrophy Corneal crystals Muscle agenesis Conductive deafness Expressionless face Abnormal muscle biopsy Myopathy Protein in the urine Renal glomerular defect Speech [checkorphan.org]

Aliases & Classifications for Arnold Stickler Bourne Syndrome Summaries for Arnold Stickler Bourne Syndrome MalaCards based summary : Arnold Stickler Bourne Syndrome, is also known as corneal crystals myopathy and neuropathy. [malacards.org]

Search database Search term Limits Advanced Help Full Report Format Full Report Summary (Text) Summary (XML) Send to: Choose Destination File Clipboard Collections MedGen UID: 419426 •Concept ID: C2931492 • Disease or Syndrome Synonyms: Corneal crystals myopathy [ncbi.nlm.nih.gov]

Arnold RW, Stickler GB, Bourne WM, et al: Corneal crystals, myopathy and nephropathy: A new syndrome? J Pediatr Ophthalmol Strabismus 1987; 24:151-154. 2. [healio.com]

Muscle cramps, stiffness, and spasm can also be associated with myopathy. Because myopathy is such a general term, there are several classes of myopathy.... (ICD-10 codes are provided where available.) [wikidoc.org]

atrophy with contractures - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures - See Autosomal dominant spinal muscular atrophy, lower [herenciageneticayenfermedad.blogspot.com]

atrophy Arylsulfatase A deficiency Asymmetric septal hypertrophy Ataxia telangiectasia variant V1 Atelosteogenesis, type II Athabaskan brain stem dysgenesis Atresia of small intestine Atrioventricular septal defect Atrophoderma of Pierini and Pasini [mindmappedia.com]

atrophy Aran Duchenne type ADULT syndrome Adult-onset citrullinemia type II Advanced sleep phase syndrome familial Aerobic actinomyces infection Afibrinogenemia Agammaglobulinemia X-linked type 2 Agammaglobulinemia microcephaly and severe dermatitis [personalizedcause.com]

atrophy Ary Arylsulfatase A deficiency As Asbestosis Ascariasis Ascher's syndrome Aseptic meningitis Asherman's syndrome Ashman phenomenon Aspartylglycosaminuria Aspergillosis Asperger syndrome Asphyxia neonatorum Aspiration pneumonia Asplenia Astasia-abasia [wikiwand.com]

atrophy Ary[edit] Arylsulfatase A deficiency As[edit] Asbestosis Ascariasis Ascher's syndrome Aseptic meningitis Asherman's syndrome Ashman phenomenon Aspartylglycosaminuria Aspergillosis Asperger syndrome Asphyxia neonatorum Aspiration pneumonia Asplenia [en.wikipedia.org]

Weakness of hand muscles Wasting of hand muscles Causes Conditions listing Arnold Stickler Bourne syndrome as a symptom may also be potential underlying causes of Arnold Stickler Bourne syndrome. [checkorphan.org]

To review the differential diagnosis of Muscle weakness and stiffness, click here. To review the differential diagnosis of Muscle weakness and Myoglobinuria, click here. [wikidoc.org]

Fracture Risk in Relation to Serum 25-Hydroxyvitamin D and Physical Activity: Results from the EPIC-Norfolk Cohort Study. PLoS ONE. 11(10): e0164160. PMID: 27749911 doi: 10.1371/journal.pone.0164160 306. [iarc.fr]

Nystagmus Pharyngeal abnormality Amyotrophy Corneal crystals Muscle agenesis Conductive deafness Expressionless face Abnormal muscle biopsy Myopathy Protein in the urine Renal glomerular defect Speech defect Ureteric anomalies Vascular hypertension Retinal [checkorphan.org]

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Symptoms Abnormal voice Abnormal cry Abnormal gait Nystagmus Pharyngeal abnormality Amyotrophy Corneal crystals Muscle agenesis Conductive deafness Expressionless face Abnormal muscle biopsy Myopathy Protein in the urine Renal glomerular defect Speech [checkorphan.org]

[…] deficiency syndrome - See Spastic paraplegia 51 APBD - See Adult polyglucosan body disease APBN - See Adult polyglucosan body disease APC resistance, Leiden type - See Factor V Leiden thrombophilia - not a rare disease APCA - See Episodic ataxia with nystagmus [herenciageneticayenfermedad.blogspot.com]

[…] such as lung cancer radiotherapy and liver… Expand This paper focuses upon renewed methodologies for social research in order to explore and re-present the complexity of lived… Expand The Fourth Biennial Prostate Cancer Charitable Trust Meeting was as exciting [semanticscholar.org]

Symptoms Abnormal voice Abnormal cry Abnormal gait Nystagmus Pharyngeal abnormality Amyotrophy Corneal crystals Muscle agenesis Conductive deafness Expressionless face Abnormal muscle biopsy Myopathy Protein in the urine Renal glomerular defect Speech [checkorphan.org]

Liver enzymes Positive PCR N/A N/A Polio[22] 5 yrs Proximal Asymmetrical paralysis Muscle atrophy Tremors Skeletal deformities History of skipped immunization. [wikidoc.org]