The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Clinically the patient presented an unusual neuropsychic involution and pyramido-extrapyramidal symptomatology. The karyotypic analysis showed chromosomal breakage em 12% of the cells. [scielo.br]

Other disorders which present with osteosclerosis are also described. These include Caffey disease, oculodento-osseous dysplasia, central osteosclerosis with bamboo hair, fluorosis, osteosclerosis associated with renal disease and mastocytosis. [link.springer.com]

National Suicide Prevention Lifeline Serves many people with rare and chronic diseases and understands that these diagnoses can be very isolating and present a heavy emotional (and sometimes financial) burden. [rarediseases.info.nih.gov]

• Pain

  During the physical exam, the health care provider will look for physical signs of a medical problem, such as pain and swelling or the presence of liquid or solid masses within the body. [rarediseases.info.nih.gov]

  […] syndrome + Cogan syndrome + Cohen Syndrome Cohen-Gibson Syndrome cold-induced sweating syndrome + Cole-Carpenter syndrome + Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome communication disorder + compartment syndrome + complex regional pain [rgd.mcw.edu]

  Classification In order to gain insight into the pathophysiology of vision loss which will in turn guide treatment decisions, the signs and symptoms should be characterized: Unilateral Bilateral Transient Persistant Sudden Gradual Painless Painful Pathophysiology [wikidoc.org]

• Amyloidosis

  Herepes simplex/zoster Ocular onchocerciasis "River blindness" Onchocera volvulus worm Optic neuritis Orbital apex/superior orbital fissure/cavernous sinus syndrome Uveitis Life-Threatening Causes Common Causes Causes by Organ System Cardiovascular Al amyloidosis [wikidoc.org]

  Hypoplasia, and Elliptocytosis Alsing Syndrome Alstrom syndrome Alves Castelo dos Santos Syndrome Ameloonychohypohidrotic Syndrome Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis Amniotic Band Syndrome + Amyloidosis [rgd.mcw.edu]

• Swelling

  During the physical exam, the health care provider will look for physical signs of a medical problem, such as pain and swelling or the presence of liquid or solid masses within the body. [rarediseases.info.nih.gov]

• Corneal Edema

  Causes of media opacity include corneal edema, hyphema, cataract and vitreous hemorrhage. Retinal Disease Retinal diseases may cause sudden visual loss. [wikidoc.org]

• Skin Lesion

  Skin Lesions, and Spastic Paraplegia: # Title Authors PMID Year 1 [A new bone syndrome with skin anomalies and neurologic disorders]. 57 5697256 1968 Search GEO for disease gene expression data for Metaphyseal Modeling Abnormality, Skin Lesions, and [malacards.org]

  About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia See more Don’t fight Roy Maroteaux Kremp syndrome alone. [rareguru.com]

• Eczema

  Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy Growth Mental Deficiency Syndrome of Myhre GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY Growth Retardation, Small and Puffy Hands and Feet, and Eczema [rgd.mcw.edu]

• Skin Plaque

  […] density 30 HP:0011001 2 spastic paraplegia 30 HP:0001258 3 abnormality of the skin 30 HP:0000951 Symptoms via clinical synopsis from OMIM®: 57 (Updated 26-Feb-2023) Neuro: spastic paraplegia Skin: plaque-like skin lesions Skel: increased bone density [malacards.org]

• Suggestibility

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  Talk to a doctor to learn if any imaging studies are suggested to diagnose or manage this disease. Diagnostic imaging studies let doctors look inside a patient's body for clues to help diagnose or manage a disease. [rarediseases.info.nih.gov]

  Cephalin Lipidosis cerebellar ataxia, mental retardation and dysequlibrium syndrome + Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Hypoplasia with Endosteal Sclerosis Cerebellar Vermis Aplasia with Associated Features suggesting [rgd.mcw.edu]

• Visual Hallucination

  Visual Pathway Disorder Visual pathway disorders are any problems that may impede the visual pathway. Rarely, acute visual loss is caused by homonymous hemianopia and, more rarely, cortical blindness. [wikidoc.org]

• Increased Bone Density

  bone mineral density 30 HP:0011001 2 spastic paraplegia 30 HP:0001258 3 abnormality of the skin 30 HP:0000951 Symptoms via clinical synopsis from OMIM®: 57 (Updated 26-Feb-2023) Neuro: spastic paraplegia Skin: plaque-like skin lesions Skel: increased [malacards.org]

It is important to write down: When your symptoms began How the symptoms changed over time Previous doctor visits and tests Any treatments that have been tried. [rarediseases.info.nih.gov]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Patient Handouts on Vision loss Directions to Hospitals Treating Vision loss Risk calculators and risk factors for Vision loss Healthcare Provider Resources Symptoms of Vision loss Causes & Risk Factors for Vision loss Diagnostic studies for Vision loss Treatment [wikidoc.org]

The role of viruses in the etiology of chromosomal abnormalities. Amer. J. Hum. Genet. 18:81, 1966. 16. PYLE, E. A case of unusual bone development. J. Bone Jt. Surg. 13:874, 1931. 17. [scielo.br]

Classification In order to gain insight into the pathophysiology of vision loss which will in turn guide treatment decisions, the signs and symptoms should be characterized: Unilateral Bilateral Transient Persistant Sudden Gradual Painless Painful Pathophysiology [wikidoc.org]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

The following tools may help you gather the information you need: Milestone Tracker App [CDC] Tracks a child's milestones from age 2 months to 5 years with Center for Disease Control and Prevention's (CDC) easy-to-use illustrated checklists. [rarediseases.info.nih.gov]

Vertebrobasilar artery insufficiency Vision loss is bilateral and lasts minutes Vitreous hemorrhage Vitreous detachment Vision Loss > 24 hours:Sudden, Painless Exposure(Welder's flash) prolonged exposure to intense light/sunlight Ischemic optic neuropathy To prevent [wikidoc.org]