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

In 2012, he also published a rare case report on hypercalcemia as a presenting clinical manifestation of adenocarcinoma of the colon in World Journal of Oncology. [books.google.com]

Ketoaciduria is present and various neurological and muscular anomalies (peripheral muscle wasting) can be observed. Ketoaciduria Mental Deficiency with Ataxia and Deafness Syndrome. Autosomal recessive. Unknown. [accessanesthesiology.mhmedical.com]

Patients in the pediatric age group with atypical celiac disease present with short stature and iron deficiency anemia. [27] P. [annalsofian.org]

• Male Hypogonadism

  MIM 308200 Gene The designation RUD syndrome was used for a congenital non-bullous ichthyosiform erythroderma (NBIE) with anemia, seizures, male hypogonadism, small stature, mental retardation, and retinitis pigmentosa. [vi.scribd.com]

  Hypogonadism with Mental Retardation and Skeletal Anomalies Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type Malignant Carcinoid Syndrome Mallory-Weiss Syndrome Malouf Syndrome Mammary-Digital-Nail Syndrome Mandibular Hypoplasia, [rgd.mcw.edu]

• Strabismus

  High-arched foot 0001761 Pes planus Flat feet Flat foot [ more ] 0001763 Primary amenorrhea 0000786 Progressive Worsens with time 0003676 Sensorineural hearing impairment 0000407 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Strabismus [rarediseases.info.nih.gov]

• Joint Stiffness

  stiffness Stiff joint Stiff joints [ more ] 0001387 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Reduced bone mineral density Low solidness and mass of the bones 0004349 Percent of people who have these symptoms is not available through [rarediseases.info.nih.gov]

• Dolichocephaly

  Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ] 0001268 30%-79% of people have these symptoms Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Ketonuria 0002919 5%-29% of people have these symptoms Dolichocephaly [rarediseases.info.nih.gov]

• Muscular Atrophy

  Atrophy with Mental Retardation Spinal Muscular Atrophy with Microcephaly and Mental Subnormality SPOAN syndrome spondylocarpotarsal synostosis syndrome Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type Spondyloepimetaphyseal Dysplasia, Genevieve [rgd.mcw.edu]

• Hearing Impairment

  Showing of 31 Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Ataxia 0001251 Distal amyotrophy Distal muscle wasting 0003693 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hearing impairment [rarediseases.info.nih.gov]

• Primary Amenorrhea

  “Richards-Rundle Syndrome” In our body, the dis-ease, Richards-Rundle Syndrome is the allopathic name of a syndrome primary amenorrhea, with neurological manifestations of peripheral muscle wasting, nystagmus, dementia, mental retardation and associated [wellnessadvocate.com]

  amenorrhea 0000786 Progressive Worsens with time 0003676 Sensorineural hearing impairment 0000407 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes equinovarus [rarediseases.info.nih.gov]

• Amenorrhea

  “Richards-Rundle Syndrome” In our body, the dis-ease, Richards-Rundle Syndrome is the allopathic name of a syndrome primary amenorrhea, with neurological manifestations of peripheral muscle wasting, nystagmus, dementia, mental retardation and associated [wellnessadvocate.com]

  Her secondary amenorrhea was atypical since most of the reported cases of AAHH, manifested by primary amenorrhea. [bjmg.edu.mk]

  […] disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Mutism Inability to speak Muteness [ more ] 0002300 Pes cavus High-arched foot 0001761 Pes planus Flat feet Flat foot [ more ] 0001763 Primary amenorrhea [rarediseases.info.nih.gov]

• Nystagmus

  Rich·ards-Run·dle syn·drome ( rich'ărds rŭn'dĕl ), a disorder beginning in early childhood with severe, progressive sensorineural hearing loss, ataxia, muscle wasting nystagmus, absent deep tendon reflexes, mental retardation, failure to develop secondary [medical-dictionary.thefreedictionary.com]

  […] extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus [ncbi.nlm.nih.gov]

  […] extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus [malacards.org]

  “Richards-Rundle Syndrome” In our body, the dis-ease, Richards-Rundle Syndrome is the allopathic name of a syndrome primary amenorrhea, with neurological manifestations of peripheral muscle wasting, nystagmus, dementia, mental retardation and associated [wellnessadvocate.com]

• Neurologic Manifestation

  An extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, [ncbi.nlm.nih.gov]

  manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.Visit the Orphanet disease page for more resources. [malacards.org]

  “Richards-Rundle Syndrome” In our body, the dis-ease, Richards-Rundle Syndrome is the allopathic name of a syndrome primary amenorrhea, with neurological manifestations of peripheral muscle wasting, nystagmus, dementia, mental retardation and associated [wellnessadvocate.com]

  manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia ) and ketoaciduria. [rarediseases.info.nih.gov]

• Mental Deterioration

  Abstract The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. [ncbi.nlm.nih.gov]

  Summary The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. [link.springer.com]

  deterioration Cognitive decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ] 0001268 30%-79% of people have these symptoms Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Ketonuria 0002919 [rarediseases.info.nih.gov]

• Hyperreflexia

  In addition to the three principal signs, abnormal gait, hypogonadism, amyotrophy or muscle agenesis, hyperreflexia, hypertonia or spasticity, osteoporosis, and restricted joint mobility can be observed. [accessanesthesiology.mhmedical.com]

  Hearing defect [ more ] 0000365 Hypergonadotropic hypogonadism 0000815 Mental deterioration Cognitive decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ] 0001268 30%-79% of people have these symptoms Hyperreflexia [rarediseases.info.nih.gov]

• Areflexia

  […] density Low solidness and mass of the bones 0004349 Percent of people who have these symptoms is not available through HPO Absence of secondary sex characteristics 0008187 Aggressive behavior Aggression Aggressive behaviour Aggressiveness [ more ] 0000718 Areflexia [rarediseases.info.nih.gov]

• Ketonuria

  0000815 Mental deterioration Cognitive decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ] 0001268 30%-79% of people have these symptoms Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Ketonuria [rarediseases.info.nih.gov]

• Vibrio Parahaemolyticus

  parahaemolyticus. 61 Yu J...Liu Y 30010854 2018 26 The Complete Mitogenome of Falco amurensis (Falconiformes, Falconidae), and a Comparative Analysis of Genus Falco. 61 Yang C...Li X 30079837 2018 27 Characterization of the complete mitochondrial genome [malacards.org]

• Fasciolopsis Buski

  buski (Digenea: Fasciolidae) from China and India may represent distinct taxa based on mitochondrial and nuclear ribosomal DNA sequences. 61 Ma J...Zhu XQ 28228149 2017 45 Phylogenetic relationships of Mediterranean and North-East Atlantic Cantharidinae [malacards.org]

Skip to content Home About Us Team Log In News Videos Treatments Clinical Trials Access Programs Diseases Events Networks All News People Treatment Research Finance All Access Programs Main Menu Subscribe for Free Newsletter Email * Type * * Required [checkorphan.org]

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

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

The analysis studied the occurrence of voice and resonance disorders in general, the occurrence in different etiological subtypes of syndromes and the association with other disorders, in particular clefting, a cognitive impairment and hearing problems [karger.com]

Etiology of the weakness in Coffin-Lowry Syndrome [abstract]. Am J Hum Genet 1986; 39 : A85. 39 Fryns JP, Vinken L, Van den Berghe H. The Coffin syndrome. Hum Genet 1977; 36 : 271–276. 40 Partington MW, Mulley JC, Sutherland GR, Thode A, Turner G. [nature.com]

Evidence that autistic traits show the same etiology in the general population and at the quantitative extremes (5%, 2.5%, and 1%). Arch Gen Psychiatry. 2011 Nov; 68(11):1113-21. PMID: 22065527. [connects.catalyst.harvard.edu]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

We also present a working definition for the chronic fatigue syndrome designed to improve the comparability and reproducibility of clinical research and epidemiologic studies, and to provide a rational basis for evaluating patients who have chronic fatigue [annals.org]

Lifecourse epidemiology and molecular pathological epidemiology. Am J Prev Med. 2015 Jan; 48(1):116-9. PMID: 25528613; PMCID: PMC4274745. Dalvie S, Stein DJ, Koenen K, Cardenas V, Cuzen NL, Ramesar R, Fein G, Brooks SJ. [connects.catalyst.harvard.edu]

DiGeorge (22q11.2 deletion) syndrome: Epidemiology and ... ; Jul 25, 2017 ... DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated ... To continue reading this article, you must log in. ... [xylwjzor.ga]

The American Journal of Clinical Nutrition, Volume 105, Issue 3, 1 March 2017, Pages 635–650, Abstract View article Supplementary data Tags: adult, cytokine, diet, feces, grain, whole Nutritional epidemiology and public health Dietary intake and peripheral [ajcn.nutrition.org]

My research program focuses on genetics, pathophysiology (and the correlation with genetics), and mathematical modeling of physiologic systems. [profiles.sc-ctsi.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]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]

Main report, Hannah McGee, Karen Morgan, and Helen Burke PDF Implementation of the 4th Joint Societies’ Task Force Guidelines on Cardiovascular Disease Prevention in Clinical Practice. Evaluating implementation across 13 European countries. [epubs.rcsi.ie]

Treatment is aimed at reducing the severity of the symptoms and preventing your immune system from destroying kidney and lung tissue. [springfieldclinic.staywellsolutionsonline.com]

To prevent confusion, Temtamy suggested the eponym Coffin-Lowry Syndrome, which has become the standard term. In 1976, Smith 14 reviewed the syndrome and accepted it as genuine. [nature.com]