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X-linked Intellectual Disability Type Raymond


Presentation

  • Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments[books.google.de]
  • Patient organisations (0) Orphan drug(s) (0) Research activities on this disease Research projects (0) Clinical trials (0) Registries/biobanks (0) Networks (0) Specialised Social Services Eurordis directory The documents contained in this web site are presented[orpha.net]
  • In conclusion, we present here a de novo 500 kb triplication at Xq25 that overlaps almost perfectly with several previously reported microduplications in this region and presenting with a similar phenotype.[alabmed.com]
  • Signs and symptoms ALD can present in different ways. The different presentations are complicated by the pattern of X-linked recessive inheritance.[checkrare.com]
  • Peripheral neuropathy may be present and contribute to motor disability. MRI findings are consistent with hypomyelination with minimal or extremely slow myelination. Myelin is present in the internal capsule and is usually normal in the cerebellum.[rarediseases.org]
Disability
  • Intellectual Disability Raymond Type Publications for Syndromic X-Linked Intellectual Disability Raymond Type Variations for Syndromic X-Linked Intellectual Disability Raymond Type Expression for Syndromic X-Linked Intellectual Disability Raymond Type[malacards.org]
  • : A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1.[informatics.jax.org]
  • : - GARD: - MedDRA: - Summary This disease has been moved to X-linked intellectual disability with marfanoid habitus Additional information Further information on this disease Classification(s) (0) Gene(s) (0) Other website(s) (0) Health care resources[orpha.net]
  • Here, we present a male with intellectual disability and dysmorphic features, including narrow forehead, fronto-orbital hyperplasia, and prognathism.[alabmed.com]
  • 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]
Marfanoid Habitus
  • habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1.[informatics.jax.org]
  • habitus Additional information Further information on this disease Classification(s) (0) Gene(s) (0) Other website(s) (0) Health care resources for this disease Expert centres (0) Diagnostic tests (0) Patient organisations (0) Orphan drug(s) (0) Research[orpha.net]
  • Some patients have marfanoid habitus. Molecular pathology Defects in ZDHHC9, which encodes a zinc finger protein, cause MRXSZ.[medical-dictionary.thefreedictionary.com]
  • habitus - XLMR with marfanoid habitus Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities[csbg.cnb.csic.es]
  • Mutations in ZDHHC9 , which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am J Human Gen. 2007, 80:982-987.[egl-eurofins.com]
Malnutrition
  • Common (but preventable) environmental causes of ID are iodine deficiency and malnutrition (of both mother and child), affecting millions of people in “developing countries”.[f1000research.com]
  • The environmental factors such as maternal alcohol abuse during pregnancy, infections, birth complications and extreme malnutrition are major causes of ID. However, genetic factors play a significant role in the development of ID.[alliedacademies.org]
Prognathism
  • Here, we present a male with intellectual disability and dysmorphic features, including narrow forehead, fronto-orbital hyperplasia, and prognathism.[alabmed.com]
  • Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome X-Linked Intellectual Disability , Pai Type X-Linked Intellectual Disability With Marfanoid Habitus X-Linked Mandibulofacial Dysostosis X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism[familydiagnosis.com]
Suggestibility
  • Homepage Rare diseases Search Search for a rare disease * (*) mandatory field Disease name Orpha number OMIM ICD-10 Gene name or symbol Other search option(s) Alphabetical list Suggest an update ( * ) Required fields.[orpha.net]
  • Estimates suggest that the prevalence of learning disability is 2-3%.[sciencedaily.com]
  • To our knowledge, this is the first family identified with a submicroscopic duplication including the entire RPS6KA3/ RSK2 gene, and our findings suggest that an increased dose of this gene is responsible for a mild form of NS-XLID.[pediatrics.aappublications.org]
  • Numerous lines of evidence suggest a link between hyperserotonemia, i.e., elevated serotonin (5-hydroxytryptamine or 5-HT) in whole blood, and ASD. However, the gene...[openaire.eu]
  • This very large study suggested that testing of individual boys for X-linked gene mutations is warranted.[pediatrics.aappublications.org]
Narrow Face
  • septum pellucidum total / partial agenesis - Flat cheek bones / malar hypoplasia - High nasal bridge - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Long hand / arachnodactyly - Macroorchidism / macrotestes - Narrow[csbg.cnb.csic.es]
  • face Stereotypy Joint hyperflexibility Gait disturbance Hypoplasia of the corpus callosum Hypertonia Abnormality of metabolism/homeostasis Dystonia Malar flattening Small forehead Pes cavus Constipation Alopecia areata Attention deficit hyperactivity[mendelian.co]
  • The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple, low-set, prominent ears; and puffy eyelids.[nature.com]
  • Phenotypic abnormalities associated with Fragile X syndrome include developmental delay/intellectually disability, autistic behaviors, characteristic narrow face with large jaw, and speech and language disorders.[aetna.com]
Narrow Forehead
  • Here, we present a male with intellectual disability and dysmorphic features, including narrow forehead, fronto-orbital hyperplasia, and prognathism.[alabmed.com]
  • forehead Agenesis of corpus callosum Blindness Holoprosencephaly Long fingers Hearing impairment Psychosis Amblyopia Open bite Hyperplasia of the maxilla Pain Downslanted palpebral fissures Wide nasal bridge Blepharophimosis Short philtrum Sparse hair[mendelian.co]
Cognitive Deficit
  • This approach emphasizes the importance of looking at the other functional impacts of these manifestations (e.g. cognitive deficits secondary to depression, orthodopaedic ambulation issues).[books.google.de]
  • Schoichet SA, Hoffman K, Menzel C, et al. (2003) Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X‐linked mental retardation. American Journal of Human Genetics 73: 1341–1354.[els.net]
  • J Med Genet 2004;41:394-399 Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, et al: Mutations in the ZNF41 gene are associated with cognitive deficits: Identification of a new candidate for X-Linked mental retardation.[karger.com]
  • Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X‐linked mental retardation. Am J Hum Genet 2003 73 (6)1341–1354. [ PMC free article ] [ PubMed ] [ Google Scholar ] 61.[ncbi.nlm.nih.gov]
  • Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):24-35. Epub 2012 Nov 26. Also available: . PMID: 23184456 Chen LS, Xu L, Huang TY, et al.[effectivehealthcare.ahrq.gov]
Confusion
  • This can be confusing for parents of children who have been diagnosed as having an 'autism spectrum disorder'.[books.google.de]
  • The lack of a consistent use of this distinction has led to confusion regarding this particular issue.[pediatrics.aappublications.org]
  • Familial cold autoinflammatory syndrome shares symptoms, and should not be confused, with acquired cold urticaria, a more common condition mediated by different mechanisms that usually develop later in life and are rarely inherited.[aetna.com]
Apraxia
  • Broad nasal tip Deeply set eye Short attention span Dental crowding Esotropia Wide mouth Anteverted nares Depressed nasal bridge Infantile onset Diastema Ileus Redundant skin Mask-like facies Myopathic facies Chronic constipation Self-mutilation Speech apraxia[mendelian.co]
  • Asperger syndrome susceptibility Ataxia and muscle hypotonia Ataxia telangiectasia like disorder Ataxia, posterior column, with retinitis pigmentosa Ataxia, progressive seizures, mental deterioration, and hearing loss, MT-TV related Ataxia-oculomotor apraxia[qlinics.com]

Workup

  • Clinical workup of patients with ID should include karyotyping and, if clinically indicated, analysis for specific chromosome (Wolf-Hirschhorn, Angelman, Williams, etc.) or single gene (Noonan syndrome, Kabuki syndrome, etc.) disorders.[karger.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]
Prolonged QT Interval
  • The long QT syndrome (LQTS) is a familial disease characterized by an abnormally prolonged QT interval and, usually, by stress-mediated life-threatening ventricular arrhythmias (Priori et al, 2001).[aetna.com]

Treatment

  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.de]
  • Kenneth Aitken demystifies the umbrella term 'autism' by alphabetically listing these conditions along with information about how common they are, their causes, signs, and symptoms, and for many, appropriate methods of treatment and management.[books.google.de]
  • 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]
  • Treatment options for ALD are limited. Dietary treatment is with Lorenzo’s oil . For the childhood cerebral form, stem cell transplant and gene therapy are options if the disease is detected early in the clinical course.[checkrare.com]
  • Our test offering now includes Genomic Medicine, Hereditary Cancer Risk Assessment, Expanded Carrier Screening, Pharmacogenomics & Personalized Medicine, Cardiomyopathy, and Whole Exome & RNA Sequencing for precision treatment of tumors, and testing for[otogenetics.com]

Prognosis

  • “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]
  • The presence of syndactyly seems to represent a different genetic variant of LQTS also associated with a poor prognosis.[aetna.com]
  • […] tests include establishing an etiologic diagnosis in patients with neurodevelopmental manifestations but without syndromic features, ending the diagnostic odyssey of many visits to specialists, avoiding other forms of testing, improving understanding of prognosis[effectivehealthcare.ahrq.gov]

Etiology

  • Data-driven discovery of seasonally linked diseases from an Electronic Health Records system Background Patterns of disease incidence can identify new risk factors for the disease or provide insight into the etiology.[openaire.eu]
  • (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]
  • Etiology is heterogeneous, owing to numerous genetic and environmental factors. Underlying etiology remains undetermined in 75–80% of mildly disabled patients and 20–50% of those severely disabled.[karger.com]
  • The consequences often are moderate to profound MR of unknown etiology.[scielo.br]

Epidemiology

  • You are ( * ) If you have selected the “Other” category, please specify which type of user you are: * Email address: * Topic of your comment * Epidemiology data Summary and related texts Related genes Clinical signs Nomenclature and/or coding Your message[orpha.net]
  • However little data exists about the epidemiological relevance of familial MR.[scielo.br]
  • XLMR with marfanoid habitus Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Following epidemiologic evidence, we used the rate of congenital malformations of the reproductive system as a...[openaire.eu]
  • Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Peripheral motor contributions to the pathophysiology of BVVL-related mutations in riboflavin transporter 3: Pathophysiological insights from nerve excitability testing. 2013 Meeting of the Peripheral Nerve Society , USA: Wiley-Blackwell Publishing, Inc[sydney.edu.au]
  • Chelly J, Khelfaoui M, Francis F, Chérif B, Bienvenu T: Genetics and pathophysiology of mental retardation. Eur J Hum Genet 14:701–713 (2006). Chiurazzi P, Schwartz CE, Gecz J, Neri G: XLMR genes: update 2007.[karger.com]
  • The pathophysiology of fragile x syndrome. Annu Rev Genomics Hum Genet 2007; 8:109-129. [ Links ] 12. Yan QJ, Rammal M, Tranfaglia M, Bauchwitz RP. Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP.[scielo.br]
  • Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA.[aetna.com]

Prevention

  • The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodexoycholic acid.[rarediseases.org]
  • A preventable cause of MR, FAS represents the upper extreme of a large spectrum of effects caused by fetal alcohol exposure.[scielo.br]
  • Common (but preventable) environmental causes of ID are iodine deficiency and malnutrition (of both mother and child), affecting millions of people in “developing countries”.[f1000research.com]
  • In addition, in some cases, treatment with anticonvulsant drugs may help prevent, reduce, or control seizures potentially occurring in association with the disorder.[rarediseases.org]
  • Interventions for the prevention and treatment of pes cavus (Review). Cochrane Database of Systematic Reviews , (4), 1-18. [More Information] Crosbie, W., Burns, J. (2007).[sydney.edu.au]

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