List of Genetic Loci Contained within and Flanking the Deletions Locus Description Family G Family H RPS6KA6 Ribosomal protein S6 kinase, 90kDa, polypeptide 6 Present Present CXorf43 Chromosome X open reading frame 43 Present Present FAM121A Family with [iovs.arvojournals.org]

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.de]

Acronym MRXS11 Synonyms Mental retardation, X-linked, Shashi type Mental retardation, X-linked, syndromic 11, Shashi type Shashi X-linked mental retardation syndrome SMRXS Keywords Any medical or genetic information present in this entry is provided for [uniprot.org]

His mother was also affected by the disease and presented with short stature and Madelung deformity. His mother reported wide desquamation in her son shortly after birth. The patient also presented with left cryptorchidism. [medicaljournals.se]

Paper previously presented in the poster session at: American Society of Human Genetics hosting the 12th International Congress of Human Genetics, October 11–15, 2011; Montreal, Quebec, Canada. [ajnr.org]

• Disability

  disability, XL CLIC2 Intellectual disability, XL CNKSR2 X-linked intellectual disability and seizures, non-syndromic CUL4B Mental retardation, X-linked, syndromic 15 (Cabezas type) DCX Lissencephaly, X-linked DDX3X Mental retardation, X-linked 102 DKC1 [preventiongenetics.com]

  Developmental Disabilities Research Reviews 15: 361–368. [els.net]

  Intellectual disability (ID), sometimes also referred to as ‘mental retardation’ and ‘cognitive disability’, is a lifelong disability that presents in infancy or the early childhood years and is typically measured in three domains: intelligence (IQ), [dnatesting.uchicago.edu]

  Clinical psychologists' attitudes towards the biology and ‘new genetics’ of intellectual and developmental disabilities: a pilot study using Q-methodology. Journal of Intellectual Disability Research, Vol. 60, Issue. 11, p. 1054. [bjp.rcpsych.org]

  X-linked intellectual disability (previously known as X-linked mental retardation ) refers to forms of intellectual disability which are specifically associated with X-linked recessive inheritance. [en.wikipedia.org]

• Atrial Septal Defect

  Treatment Treatment Options: There is no known treatment for the general disorder but individual anomalies or defects such as atrial septal defects, cleft palate, and anal atresia might be surgically corrected. [disorders.eyes.arizona.edu]

  […] lip/palate TP63 Anterior segment mesenchymal dysgenesis PITX3 Antley-Bixler syndrome FGFR2 Apert syndrome FGFR2 Athabaskan brainstem dysgenesis syndrome HOXA1 Atrial septal defect type 2 GATA4 Atrial septal defect with atrioventricular conduction defects [centogene.com]

  Bilateral lens subluxation, facial paralysis, atrial septal defect, scoliosis, cholelithiasis have been found occasionally. The causative gene has not yet been identified. [findzebra.com]

• Weight Gain

  Features in “young” sporadic and familial cases indicating creatine deficiency are short stature, low weight gain and poor muscle build, hypotonia, movement disorder (extrapyramidal/spasticity), seizures, behavior and expressive language problems, and [latunisiemedicale.com]

  Assessment of maternal health status during pregnancy with the involved child should include questions regarding use of tobacco, alcohol and drugs (prescribed and illicit); lifestyle or other risks for sexually transmitted diseases; weight gain or loss [aafp.org]

• Pathologist

  Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009). Genet Med. 2012 Mar;14(3):306-12. Also available: http://dx.doi.org/10.1038/gim.2011.11. [effectivehealthcare.ahrq.gov]

• Disproportionate Short Stature

  His disproportionate short stature and Madelung deformity were characteristic of LWD. The disease was confirmed by fluorescence in situ hybridization (FISH) analysis, which revealed a SHOX deletion. [medicaljournals.se]

• Vomiting

  The systems review of the child should be complete, with special attention to growth problems, history of seizures, lethargy and episodic vomiting. [aafp.org]

  The mother suffered from nausea and vomiting during the whole pregnancy and had a seasonal flu in the second trimester. The patient was the second twin and was born at term by vaginal dystocic delivery. [ojrd.biomedcentral.com]

  The presence of a fistula can be indicated by signs such as coughing, gagging, vomiting, abdominal distension and, in some cases, respiratory distress. Gatrointestinal atresia must be treated immediately or it can be fatal. [findzebra.com]

• Nausea

  […] envenenamiento por paraquat es una intoxicación rara con paraquat (un herbicida bipiridilo no selectivo prohibido en Europa) que normalmente se produce por ingesta del veneno y que se presenta con lesión cáustica de la cavidad oral y faringe, así como con nauseas [femexer.org]

  The mother suffered from nausea and vomiting during the whole pregnancy and had a seasonal flu in the second trimester. The patient was the second twin and was born at term by vaginal dystocic delivery. [ojrd.biomedcentral.com]

• Failure to Thrive

  Failure to thrive is often related to the severe sucking/swallowing problems. Motor delay (due to balance problems), speech delay and delay in fine motor skills are also noted. [findzebra.com]

• Skin Disease

  The diagnosis of a skin disease was very helpful because it meant that he was not dirty and that treatment was possible. In our case, the role of the NLGN4X deletion in the development of depression is impossible to assert. [medicaljournals.se]

• Anxiety Disorder

  The DSM-5 deleted the chapter that includes disorders usually first diagnosed in infancy, childhood, a note under Anxiety Disorders says that the sequential order of at least some DSM-5 chapters has significance that reflects the relationships between [wikivisually.com]

  The most common DSM-IV diagnosis among the Fragile X boys is ADHD (73%), followed by oppositional defiant disorder, anxiety disorders (Baumgardner et al., 1995). [intellectualdisability.info]

• Bulbous Nose

  Showing of 13 | Percent of people who have these symptoms is not available through HPO Blepharophimosis Narrow opening between the eyelids 0000581 Bulbous nose 0000414 Coarse facial features Coarse facial appearance 0000280 Intellectual disability, moderate [rarediseases.info.nih.gov]

• Coarse Face

  Typically, male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, orbital hypertelorism, downslanting palpebral fissures, thick lips, a thick nasal septum with anteverted nares, and irregular or missing [link.springer.com]

• Personality Change

  Late manifestations include developmental retardation, ataxia, seizures, and personality changes. Other postnatal causes Among childhood malignancies, brain tumors are second in frequency after leukemias. [emedicine.medscape.com]

• Irritability

  Stimulants may not be helpful for children under the age of five as they may cause increased irritability. Hagerman et al. (1995) did a survey of clonidine use among 35 children with FXS. [intellectualdisability.info]

• Cryptorchidism

  Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. {ECO:0000269 PubMed:14722918}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

  The patient also presented with left cryptorchidism. His disproportionate short stature and Madelung deformity were characteristic of LWD. [medicaljournals.se]

  He had hypertelorism, slightly upslanting palpebral fissures, macrostomia, overriding second toes, lateral deviation of third fingers, small penis, hypospadias, and cryptorchidism. [ojrd.biomedcentral.com]

  Mutation analysis seems warranted for familial as well as sporadic MR males with cerebellar vermis hypoplasia,associated with ventriculomegaly/ hydrocephaly, epilepsy, hypogenitalism (cryptorchidism, hypoplastic scrotum, and microphallus), and strabismus [latunisiemedicale.com]

  High-arched palate; Cleft palate; Bifid uvula GENITOURINARY: [External genitalia, male]; Micropenis; Small scrotum; Bifid scrotum; Hypoplastic foreskin; Hypospadias; [External genitalia, female]; Underdeveloped genitalia; [Internal genitalia, male]; Cryptorchidism [findzebra.com]

• Cesarean Section

  He was delivered at term by cesarean section with no prenatal, labor or postnatal complications. He was slightly blue at birth and required oxygen. Mother and infant went home in two days, and no other newborn problems were noted. [aafp.org]

• Microphallus

  Mutation analysis seems warranted for familial as well as sporadic MR males with cerebellar vermis hypoplasia,associated with ventriculomegaly/ hydrocephaly, epilepsy, hypogenitalism (cryptorchidism, hypoplastic scrotum, and microphallus), and strabismus [latunisiemedicale.com]

These authors also noted that none of the studies reported on the value of the absence of any neurologic abnormality for a diagnostic workup and concluded that “the value for finding abnormalities or the absence of abnormalities must be higher” than the [pediatrics.aappublications.org]

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 treatment of emotional and behavioral problems. In: FXS: Diagnosis, treatment, and research, 3rd ed, Hagerman, RJ, Hagerman, PJ (Eds), Johns Hopkins University Press, Baltimore 2002. p.339-362 22. Lachiewicz AM, Dawson DV. [intellectualdisability.info]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment Treatment Options: There is no known treatment for the general disorder but individual anomalies or defects such as atrial septal defects, cleft palate, and anal atresia might be surgically corrected. [disorders.eyes.arizona.edu]

Overview A diagnosis of intellectual disability (ID) carries with it certain unique treatment needs that must be understood and addressed. [emedicine.medscape.com]

“As physicians we have experience with other children who have the same disorder, access to management programs, knowledge of the prognosis, awareness of research on understanding the disease and many other elements that when shared with the parents will [pediatrics.aappublications.org]

Common Syndromes Associated with Mental Retardation Diagnosis Incidence Etiology, including inheritance Clinical manifestations and early recognition Associated conditions Diagnostic evaluation* Prognosis Special considerations Down syndrome 1 in 600 [aafp.org]

When it is connected with fetal developmental deviations, the prognosis depends on the infant's general condition. [emedicine.medscape.com]

Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis. Salud Pública México. 2008;50:132-41. [ Links ] 29. Maulik PK, Darmstadt GL. [scielo.org.pe]

Genetic counselling aims to educate families about the syndrome, its implications and prognosis, supporting them in making informed decisions about the future and in dealing with the emotional impact of the diagnosis. [intellectualdisability.info]

The etiology remains unknown in up to 80% of cases with mild intellectual disability. Depending on the underlying etiology, the recurrence risk can vary between the background and 50%. [dnatesting.uchicago.edu]

[…] divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies [books.google.com]

(For AAP guidance related to Autism Spectrum Disorders, see Johnson and Myers. 2 ) For both pediatric primary care providers and families, there are specific benefits to establishing an etiologic diagnosis ( Table 1 ): clarification of etiology; provision [pediatrics.aappublications.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiology A number of environmental, genetic or multiple factors can cause mental retardation. [aafp.org]

Trends Genet 2003; 19 : 316–320. 7 Crawford DC, Acuna JM, Sherman S : FMR1 and the fragile X syndrome: human genome epidemiology review. [nature.com]

Relevant External Links for ARX Genetic Association Database (GAD) ARX Human Genome Epidemiology (HuGE) Navigator ARX Atlas of Genetics and Cytogenetics in Oncology and Haematology: ARX No data available for Genatlas for ARX Gene Mutations in the human [genecards.org]

Childhood disability in low- and middle-income countries: Overview of screening, prevention, services, legislation, and epidemiology. Pediatrics. 2007;120 (Supplement 1):S1-55. [ Links ] 30. Mercadante MT, Evans-Lacko S, Paula CS. [scielo.org.pe]

Leonard H and Wen X (2002) The epidemiology of mental retardation: challenges and opportunities in the new millennium. Mental Retardation and Developmental Disabilities Research Reviews 8: 117–134. [els.net]

The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002; 8: 117-34. 2. Diagnostic and statistical manual of mental disorders. Text revision (DSM-IV-TR). 4th ed. [jpma.org.pk]

The pathophysiological processes of MR in the human brain are very complex and, have most probably started already in early pregnancy. [latunisiemedicale.com]

Xq13.3, encoding a SWI/SNF-like chromatin remodeling protein. 1 The ATRX protein has 2 functionally important domains: the zinc-finger motif (ADD) and the highly conserved chromatin-remodeling domain, where the ATRX mutations cluster. 2 Although the pathophysiologic [ajnr.org]

O., Lehmer G., Hinderlich S., Reutter W., Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis, Biol Chem., 2009, 390, 591-599. PubMed Google Scholar [58] Rafiq M. [degruyter.com]

: Genetics and pathophysiology of mental retardation. Eur J Hum Genet. 2006; 14 (6): 701–713. PubMed Abstract | Publisher Full Text 10. Raymond FL, Tarpey P: The genetics of mental retardation. Hum Mol Genet. 2006; 15 (Spec No 2): R110–6. [f1000research.com]

That is why we must continue to share the stories of children who have suffered or died from vaccine preventable diseases. [shotofprevention.com]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.de]

Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions. [emedicine.medscape.com]

HOLMES, M.D., is professor of pediatrics and preventive medicine at the University of Kansas Medical Center. Address correspondence to Grace E. [aafp.org]

Prevention of intellectual and developmental disabilities. Intellect Dev Disabil. 2009; 47(4):320-2. [ Links ] 79. Calderón-González R, Calderón-Sepúlveda RF. Prevention of mental retardation. Rev Neurol. 2003;36(2):184-94. [ Links ] 80. [scielo.org.pe]