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]

• 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]

• Anemia

  […] type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis TSR2 DiGeorge syndrome TBX1 Donnai-Barrow syndrome LRP2 DOOR syndrome TBC1D24 Duane Retraction syndrome SALL4 Dysmorphism, HMG20B related HMG20B [centogene.com]

  CHROMOSOME 17p11.2 DELETION SYNDROME) Microcornea, strabismus, iris anomalies, myopia AD (sporadic unless secondary to a parental balanced translocation) RAI1, most cases caused by by a 3.7-Mb interstitial deletion in chromosome 17p11.2 #182290 SICKLE CELL ANEMIA [eyewiki.aao.org]

• Precocious Puberty

  puberty, moderate mental retardation, and severe speech impairment De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment Clinical Dysmorphology, 17, [kyouindb.iimc.kyoto-u.ac.jp]

• Hyposmia

  Abnormal function of certain cranial nerves can cause swallowing problems, facial paralysis, a sense of smell that is diminished (hyposmia) or completely absent (anosmia), and mild to profound hearing loss. [findzebra.com]

• Pneumonia

  I had the pleasure of meeting Shannon in person last year when she spoke in honor of World Pneumonia Day. At the time we met, she had traveled half way across the country to share her story. A story that, while painful, she has told countless times. [shotofprevention.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]

• Heart Disease

  Various systems are affected, and as a result, symptoms and impairments may vary and include mental retardation, microcephaly, hearing and vision impairment, congenital heart disease, and behavior problems. [emedicine.medscape.com]

  ECE1 Hirschsprung disease EDN3 Hirschsprung disease EDNRB Hirschsprung disease KIF1BP Hirschsprung disease NRG1 Hirschsprung disease NRTN Hirschsprung disease RET Hirschsprung disease ZEB2 Hirschsprung disease, type 3, susceptibility to GDNF Holoprosencephaly [centogene.com]

  It presents in the neonatal period with cyanosis due to choanal atresia (60-70%, bony/membranous, unilateral/bilateral) and/or cyanotic heart disease (75-80%; e.g. conotruncal heart malformations, aortic arch defects; see these terms). [findzebra.com]

• Hypertension

  Five of 9 patients with AGTR2 mutations had seizures and, with the exception of 1 patient, they were not hypertensive. The mental retardation ranged from moderate to severe. Two patients also showed autistic behavior. [latunisiemedicale.com]

  In addition, he had a complex cardiac defect: double-outlet right ventricle, inlet ventricular septum defect, mitral stenosis, persistent superior vena cava and pulmonary hypertension, and a hip dysplasia (right > left). [ojrd.biomedcentral.com]

• Visual Impairment

  Health outcomes : are symptoms and conditions that patients can feel or experience, such as visual impairment, pain, dyspnea, impaired functional status or quality of life, and death. [effectivehealthcare.ahrq.gov]

• 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]

• Fear

  For example, avoiding situations because you have unrealistic fears may initially reduce your anxiety, but it is non-productive in alleviating the actual problem in the long term. [curvetube.com]

  Even as I was being spit-roasted by the online publication Vox last week for spreading the goofy theory that vaccines cause autism ("Understanding the fear of vaccines: An activist explains why he buys a debunked idea"), another story on their online [ageofautism.com]

• 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]

• Tremor

  Clinical features of FXTAS include progressive intention tremor and gait ataxia, accompanied by characteristic white matter abnormalities on MRI. [intellectualdisability.info]

  Seizures and tremors are common, as are eczema and psychotic manifestations. The clinical symptoms can be prevented by use of a low-phenylalanine diet soon after birth. In most developed countries, all newborns are screened for PKU. [emedicine.medscape.com]

  All individuals demonstrated an initiation tremor but had no ataxia or other movement disorder. 19 ST3GAL3 gene: The ST3GAL3 gene (MIM # 606494) was recently identified in two consanguineous Iranian families with NS-ARMR. [jpma.org.pk]

  In familial cases, MECP2 analysis might be considered in families compatible with Xlinked inheritance, where affected males have MR spasticity, movement disorder, or resting tremors, and the Xq28 region can not be excluded by linkage analysis. [latunisiemedicale.com]

  PubMed View Article Google Scholar Cabezas DA, Slaugh R, Abidi F, Arena JF, Stevenson RE, Schwartz CE, Lubs HA: A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. [ojrd.biomedcentral.com]

• Dysarthria

  Partington syndrome (PRTS) [MIM:309510]: Characterized by mental retardation, episodic dystonic hand movements, and dysarthria. {ECO:0000269 PubMed:11889467}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

  300554 2 2 CLCN5 - - 00252 - proteinuria, hypercalciuria, nephrocalcinosis 308990 4 4 CLCN5 - - 00284 - epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy - 2 1 TBC1D24 - - 00285 - epilepsy, focal, dysarthria [databases.lovd.nl]

  Characteristic dystonic movements of the hands were observed in 63% and dysarthria in 54% (44). A point mutation in ARX gene L33P was found in a Tunisian family linked to Xp21.3 (MRX54) in which males present only mental retardation (45). [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]