Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha thalassaemia is not always present. [orpha.net]

In the ISCVT registry, only 5.1% of patients presented serious residual disability, while 70-85% of patients presented a complete recovery 2 months after follow-up. [ruralneuropractice.com]

A case of fulminant primary CNS Whipple’s disease is reported in which the diagnosis was made on clinical presentation and the magnetic resonance image. [documents.mx]

After 2 years slight foot-drop was present. There seemed to be a relation between female hormones and the recurrent disorder. The possibility that immunopathologic factors were involved was considered. [popline.org]

• Disability

  Homepage Rare diseases Search Search for a rare disease Hair defect-photosensitivity-intellectual disability syndrome Disease definition Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows [orpha.net]

  Implemented in 2009, the Americans with Disabilities Act Amendments Act (ADAAA) continues the long standing emphasis of the ADA on the right of individuals with disabilities who are otherwise qualified for a position to request and use reasonable accommodations [content.iospress.com]

  PubMed is a searchable database of medical literature and lists journal articles that discuss Hair defect-photosensitivity-intellectual disability syndrome. Click on the link to view a sample search on this topic. [rarediseases.info.nih.gov]

  We describe a 24-year-old woman with two attacks of disabling polyneuritis in successive pregnancies. She underwent uneventful cesarean sections at full term. [jamanetwork.com]

  Address reprint requests to Dr McLeod. increase in disability by one or more grades on the disability scale [12) with subsequent improvement. The onset of re- lapses was not related to change in therapy. [docslide.net]

• Photosensitivity

  Showing of 11 | 80%-99% of people have these symptoms Abnormal hair quantity 0011362 Brittle hair 0002299 Coarse hair Coarse hair texture 0002208 Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to [rarediseases.info.nih.gov]

  […] and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration. [orpha.net]

  Names and Terminology for Hair defect with photosensitivity and mental retardation Other Names : Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation; Calderon Gonzalez-Cantu syndrome Source: GARD (NIH) 1 [familydiagnosis.com]

  Diseases related to Hair Defect with Photosensitivity and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes related to Hair Defect with Photosensitivity and Mental Retardation: 60 33 (show all 13) [malacards.org]

  Research of Calderon Gonzalez-cantu Syndrome has been linked to Brain Diseases, Metabolic, Menkes Kinky Hair Syndrome, Photosensitivity Disorders. [novusbio.com]

• Kinky Hair

  Research of Calderon Gonzalez-cantu Syndrome has been linked to Brain Diseases, Metabolic, Menkes Kinky Hair Syndrome, Photosensitivity Disorders. [novusbio.com]

  Names and Terminology for Hair defect with photosensitivity and mental retardation Other Names : Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation; Calderon Gonzalez-Cantu syndrome Source: GARD (NIH) 1 [familydiagnosis.com]

  Title Other Names: Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation (formerly); Calderon Gonzalez-Cantu syndrome; Calderón-González-Cantu syndrome Categories: The following summary is from Orphanet, a [rarediseases.info.nih.gov]

  Calderon, R, Gonzales-Cantu, N: Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation. J Pediatr 95: 1007 – 1008, 1979. Google Scholar 3. [journals.sagepub.com]

• Sparse to No Eyebrows

  […] retardation Hair: stubby hair, eyebrows and eyelashes coarse hair, eyebrows and eyelashes sparse hair, eyebrows and eyelashes fragile hair, eyebrows and eyelashes Clinical features from OMIM: 234030 MalaCards organs/tissues related to Hair Defect with [malacards.org]

  […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 30%-79% of people have these symptoms Abnormality of immune system physiology 0010978 Percent of people who have these symptoms [rarediseases.info.nih.gov]

• Thin Eyebrows

  60 Very frequent (99-80%) 12 pili torti 60 Very frequent (99-80%) 13 sparse and thin eyebrow 33 HP:0000535 Symptoms via clinical synopsis from OMIM: 58 Skin: photosensitivity Neuro: nonprogressive mental retardation Hair: stubby hair, eyebrows and eyelashes [malacards.org]

  […] hair shaft Thin hair texture [ more ] 0002213 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Pili torti Flattened and twisted hair 0003777 Sparse and thin eyebrow Thin, [rarediseases.info.nih.gov]

• Sparse Eyebrows

  […] retardation Hair: stubby hair, eyebrows and eyelashes coarse hair, eyebrows and eyelashes sparse hair, eyebrows and eyelashes fragile hair, eyebrows and eyelashes Clinical features from OMIM: 234030 MalaCards organs/tissues related to Hair Defect with [malacards.org]

  […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 30%-79% of people have these symptoms Abnormality of immune system physiology 0010978 Percent of people who have these symptoms [rarediseases.info.nih.gov]

• Fear

  […] other workers. 94.5 Make the decision to quit or retire without being pressured or forced to do so by employers. 93.9 Are evaluated based on their performance, not on assumptions about MS. 93.9 Can request a review of their accommodation needs without fear [content.iospress.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

[ edit ] The treatment/management for Cantú syndrome is based on surgical option for patent ductus arteriosus in early life, and management of scoliosis via bracing. [en.wikipedia.org]

Treatment variations in cerebral venous thrombosis: An international survey. Cerebrovasc Dis 2011;32:298-300. 101. Einhäupl KM, Villringer A, Meister W, Mehraein S, Garner C, Pellkofer M, et al. Heparin treatment in sinus venous thrombosis. [ruralneuropractice.com]

Treatment n Total fruits/treatment (%) Fruit measures (mean ± SE) Total number of seeds collected/treatment Weight (g) Length (mm) Width (mm) Open-pollination 40 40 (100) 0.15 ± 0.01 (0.04–0.25) 11.90 ± 0.21 (9.26–15.02) 6.45 ± 0.12 (4.84–7.89) 7,595 [peerj.com]

Prognosis A number of individuals with ATR-X are fit and well in their 30s and 40s. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis depends on the early detection. Correcting the cause, generally the complications can be prevented. Mortality trends have diminished, and with the new technologies, surely it will continue. [ruralneuropractice.com]

Challenges of Prognosis in Cancer Pain. PAIN, 2012. [faculty.mdanderson.org]

Etiology This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. [orpha.net]

The etiologic classification of epilepsy. Epilepsia. 2011; 52(6):1052–1057. 15. West SG. Lupus and the central nervous system. Curr Opin Rheumatol. 1996;8(5):408–414. 16. Cheng T-M. [dovepress.com]

This work aims to review current knowledge about CSVT including its pathogenesis, etiology, clinical manifestations, diagnosis, and treatment. [ruralneuropractice.com]

Etiologies of a little increased 17-OHP concentrations include prematurity cheap sulfasalazine 500 mg amex, The using software is headache version. [waittfoundation.org]

Further means of distinguishing the causes of optic neuritis among these etiologies would be va... John H. Pula, Jorge C. [wfneurology.org]

ORPHA:1408 Synonym(s): Calderón-González-Cantu syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: - OMIM: 234030 UMLS: C1856241 MeSH: - GARD: 2582 MedDRA: - Summary Epidemiology It has been described in three [orpha.net]

Epidemiology It has been described in three sisters born to consanguineous parents. Last updated: 4/22/2006 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]

Overall, this combination of factors results in a complex epidemiologic situation for GAS pharyngitis. [wwwnc.cdc.gov]

Furthermore, epidemiological studies have observed that there is an high inter-individual variability in the susceptibility to arsenic-induced toxicity. [mdpi.com]

What is the pathophysiological mechanism?. Rev Neurol (Paris) 2012;168:379-80. 23. Price K, Wilson L, Tsegaye M. A case of craniocervical abscess with sinus thrombosis in Lemierre's syndrome. Br J Neurosurg 2012;26:426-8. 24. [ruralneuropractice.com]

The pathophysiologic mechanisms of neuronal damage from seizures and psychotic episodes for SLE patients have been associated with inflammatory cytokines, autoantibodies, and specific and nonspecific immune complexes. 14, 22 SLE patients are thus at an [dovepress.com]

Journal of Investigative Dermatology 135 (5), 1338-1347, 2015 43 2015 Calpain inhibitors prevent p38 MAPK activation and germ cell apoptosis after heat stress in pubertal rat testes C Lizama, CF Lagos, R Lagos‐Cabré, L Cantuarias, F Rivera, ... [scholar.google.cl]

Work: A Journal of Prevention, Assessment, and Rehabilitation, 44, 11–36. 3 Bishop M., Roessler R., Rumrill P., Frain M., Waletich B., & Umeasiegbu B. (2013). [content.iospress.com]

Correcting the cause, generally the complications can be prevented. Mortality trends have diminished, and with the new technologies, surely it will continue. [ruralneuropractice.com]

Results In this study, BMI was determined in 80 schoolchildren who were classified as obese and non-obese, according to the Centers for Disease Control and Prevention growth charts and divided into 2 equal groups. [elsevier.es]

Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. [wwwnc.cdc.gov]