This lead to the diagnosis of NF1 microdeletion syndrome. 1 SHORT REPORT We present a first case report from Oman of a 20‐month‐old male child presenting with a neurofibromatosis‐1 phenotype combined with webbed neck and short stature. [onlinelibrary.wiley.com]

We present a 3 year old girl, born to consanguineous Sephardic Jewish parents, who are known carriers of Sandhoff disease, for which prenatal diagnosis was performed with normal results. [ashg.org]

Springer, ١٧‏/١١‏/٢٠١٦ - 142 من الصفحات This book presents a long-term study in genetic isolates of indigenous small ethnics of Dagestan, located in the North-East part of Caucasus in Russia. [books.google.com]

Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4–11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. [moh-it.pure.elsevier.com]

Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11.2 microduplications. [ncbi.nlm.nih.gov]

• Fishing

  With FISH of YAC clones belonging to a 7-Mb 17q11.2 contig, we estimated the extension of all of the deletions and identified the genomic regions harboring the breakpoints. Mosaicism accounted for the mild phenotype in two patients. [ncbi.nlm.nih.gov]

  FISH on liver tissue obtained from autopsy of the sister did not show the 17q11.2 deletion, excluding the possibility of gonadal mosaicism as an explanation for her findings. [ashg.org]

  Fluorescence in situ hybridisation (FISH) studies in all three cases revealed a heterozygous microdeletion of their entire NF1 gene. [adc.bmj.com]

  […] genetic aetiology qPCR: Copy number of individual genes 46 Karyotype better for present Diagnostic Potential For Karyotype, FISH, and Chromosomal Micro- array Analysis (CMA) For Selected Disorders CMA Telomere FISH Disease specific FISH Karyotype Locus [slideplayer.com]

• Epilepsy

  / decreased lashes - Absent / decreased / thin eyebrows - Bifid tip / cleft nose / supernumerary nose - Flared / thick ala nasi - Flat cheek bones / malar hypoplasia - Long midface - Macroorchidism / macrotestes - Nasal septum deviation - Seizures / epilepsy [csbg.cnb.csic.es]

  This new edition contains several chapters on the associated problems of autism, such as intellectual disability, epilepsy, tics, eating disorders and sleep problems, as well as a chapter on epidemiology that documents the historical increase in autism [books.google.com]

  Intractable epilepsy, ID and short stature. Chromosome 16 16p11.2 Deletion/Duplication. [scielo.br]

  In NF1 there is an increased risk of scoliosis, optic gliomas (benign tumors on the optic nerve), epilepsy, and learning disability. The risk of malignant degeneration of neurofibromas is below 5 percent. [checkorphan.org]

• Tall Stature

  Phenotype correlations because of somatic mosaicism, patients with type 2 deletions frequently exhibit milder manifestations of NF1; Type-1 NF1 deletions were found to be disproportionately associated with facial dysmorphic features (90% of patients), tall [genatlas.medecine.univ-paris5.fr]

  stature Associated Genes - Mouse Orthologs - Source OMIM:613675 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) [mousephenotype.org]

  Individuals with type 1/2 microduplications may be more likely to have short stature and/or microcephaly, although one subject in our cohort with this microduplication had tall stature (subject 7, height +2.9 SD at 4 years) and another had macrocephaly [nature.com]

  Patients present a Diamond-Blackfan syndrome, pre and postnatal growth deficiency, tall stature, microcephaly, hypospadias, signs of ectodermal dysplasia and aplasia cutis vertex. [scielo.br]

• Small Teeth

  teeth, while the family reported by Grisart et al. 22 had dental enamel hypoplasia. [nature.com]

• Alopecia

  Epidemiological data: (no data available) External references: 1 OMIM reference - No MeSH references External references: 1 OMIM reference - No MeSH references 17q11.2 microduplication syndrome Very frequent - Total / partial trisomy / duplication Frequent - Alopecia [csbg.cnb.csic.es]

  Alopecia universalis Alport syndrome Amelogenesis imperfecta Amyloidosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 4 Aneurysm - osteoarthritis syndrome Aniridia Aniridia - cerebellar ataxia - intellectual disability Ankylosing [sanfordresearch.org]

  POLIPOSI ADENOMATOSA FAMILIARE DA MICRODELEZIONE 5Q22.2 RB0050 POLIPOSI FAMILIARE POLIPOSI ADENOMATOSA FAMILIARE DA MONOSOMIA 5Q22.2 RB0050 POLIPOSI FAMILIARE POLIPOSI AMARTOMATOSA INTESTINALE RN0760 AMARTOMATOSI MULTIPLE POLIPOSI CON PIGMENTAZIONE CUTANEA ALOPECIA [malattierare.regione.veneto.it]

  Kuwait Nanda (2008) described two patients of neurofibromatosis type 1 having an association with vitiligo in one, and alopecia areata and autoimmune thyroiditis in another. [cags.org.ae]

• Cafe-Au-Lait Spots

  The cafe au lait spots increase in number and size with age. Ninety-seven percent of people with NF1 have 6 or more cafe au lait spots by age 20. The skin neurofibromas appear later, usually in the second decade of life. [checkorphan.org]

  […] genetic, neoplastic, neurological, renal, skin Phenotypes Abnormal heart morphology; Abnormality of cardiovascular system morphology; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Axillary freckling; Bone cyst; Broad neck; Cafe-au-lait [mousephenotype.org]

• Premature Balding

  Premature balding, present in the previously reported family, was not present in our cohort, which may be due to the relative younger ages of the subjects. [nature.com]

• Suggestibility

  These findings suggest that RNF135 haploinsufficiency is related to overgrowth in patients with NF1 microdeletion syndrome and, for the first time, strongly indicate a position effect that warrants further genotype–phenotype correlation studies to investigate [moh-it.pure.elsevier.com]

  Our results suggest that reduced expression of HCA66, owing to haploinsufficiency of HCA66 gene, could render NF1 microdeleted patients-derived cells less susceptible to apoptosis. [ncbi.nlm.nih.gov]

  Several chapters summarize the latest data on neuroanatomy, biochemistry and neuropsychology, while three neurogenomics chapters show evidence suggesting that autism occurs due to genetic errors which cause interruption or misdirection of critical neurodevelopmental [books.google.com]

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  Published 2007 in Nature Genetics DOI: 10.1038/ng2083 17q11 microdeletions that encompass NF1 cause 5%–10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting [pdfs.semanticscholar.org]

• Behavior Disorder

  disorders and is associated with a microdeletion on chromosome 22q11. [scinapse.io]

  ID and abnormal behavioral phenotype with behavioral disorders. It is a 520-kb deletion. 16q12-q13 Deletion. [scielo.br]

• Abnormal Behavior

  ID and abnormal behavioral phenotype with behavioral disorders. It is a 520-kb deletion. 16q12-q13 Deletion. [scielo.br]

• Coarse Face

  Figure 1 (A) Case 1, aged 12 months: broad and coarse face with full cheeks and possible hypertelorism. [adc.bmj.com]

  Dysmorphic features such as facial dysmorphia, coarse face, facial asymmetry and large hands and feet are characteristic hallmarks of NF1 microdeletions. [frontiersin.org]

• Behavior Problem

  ID, speech delay, behavioral problems, seizures and ASD. [scielo.br]

  Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord 2010; 2 :26–38. 37. [nature.com]

  The disorder is characterized by a pattern of abnormalities that are present at birth (congenital) as well as behavioral and cognitive problems. [rarediseases.org]

  Behavioral problems included irritability, physical aggression, impulsivity, and tantrums particularly when routines were disrupted. He had decreased sensitivity to pain and normal hearing and vision. [hindawi.com]

• Language Delays

  About half of people with 17q12 deletion syndrome have delayed development (particularly speech and language delays), intellectual disability, or behavioral or psychiatric disorders. [medlineplus.gov]

  Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med 2005; 353 :1694–1701. 19. Berg JS, Brunetti-Pierri N, Peters SU, et al. [nature.com]

  Patients also have the Sotos phenotype, cleft palate, language delay, ID and macrocephaly. Microduplication of the Sotos syndrome region, which contains NSD1, has been associated with microcephaly, short stature and development delay. [scielo.br]

• Irritability

  Neurologically, he was drowsy, inattentive, obeying simple commands, had dense left hemiplegia and hemianesthesia, but there were no signs of meningeal irritation. [cags.org.ae]

  Behavioral problems included irritability, physical aggression, impulsivity, and tantrums particularly when routines were disrupted. He had decreased sensitivity to pain and normal hearing and vision. [hindawi.com]

Clinical Testing and Workup In the past, a specific chromosomal study known as G-band analysis, which demonstrates missing (deleted) material on chromosome 17p, was used to help obtain a diagnosis of SMS. [rarediseases.org]

It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care. [books.google.com]

Diagnosis - Neurofibromatosis type 1 Prognosis - Neurofibromatosis type 1 Treatment - Neurofibromatosis type 1 There is no cure for the disorder itself. [checkorphan.org]

Standard Therapies Treatment Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

The variable expressivity of the disease makes it challenging to establish genotype–phenotype correlations, which also affects prognosis and counselling. We here describe a 3-year-old NF1 patient with an atypical deletion and a complex phenotype. [moh-it.pure.elsevier.com]

Diagnosis - Neurofibromatosis type 1 Prognosis - Neurofibromatosis type 1 Treatment - Neurofibromatosis type 1 There is no cure for the disorder itself. [checkorphan.org]

Prognosis Because of the highly variable nature of SMS, it is impossible to generalize about prognosis for individual cases. [rarediseases.org]

Etiology Germline and mosaic microdeletions of the NF1 gene and its flanking regions caused by non-allelic homologous recombination are reported in patients with this disorder. Most occur de novo. [malacards.org]

[…] data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant Epidemiological data: (no data available) External references: 1 OMIM reference - No MeSH references External [csbg.cnb.csic.es]

This new edition contains several chapters on the associated problems of autism, such as intellectual disability, epilepsy, tics, eating disorders and sleep problems, as well as a chapter on epidemiology that documents the historical increase in autism [books.google.com]

[MeSH:NoExp] OR Incidence [Title/abstract] OR Prevalence[Title/abstract] OR Epidemiology[Title /abstract]; Medical texts, grey literature and reports from experts;  Orphanet collaborating experts. [azkurs.org]

Epidemiology The prevalence of 17q11 microdeletion syndrome is not known. About 5% of NF1 cases are reported to have deletions of the entire NF1 gene. More than 170 affected patients have been reported to date. [malacards.org]

Identification of several chromosomal aberrations may be especially important, given the unknown pathophysiology, the paucity of known br... more This case series reinforces findings from previous studies of 22q11.2 deletion syndrome (22q11.2DS) and presents [scinapse.io]

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 335: 1870, 2005. CrossRef Google Scholar 9. Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J. [link.springer.com]

This deletion includes the MBD5 gene, which is implicated in the pathophysiology of seizures. Stereotyped behaviors are also present and these are similar to Rett syndrome or Angelman syndrome. [scielo.br]

Symptoms - Neurofibromatosis type 1 Causes - Neurofibromatosis type 1 Prevention - Neurofibromatosis type 1 NF-1 cannot be prevented. [checkorphan.org]

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control Institute, No 59, Xiangzhu Road, Nanning, China. [pubfacts.com]

[…] treatment of complications.10, 11 We referred the patient to appropriate specialists as part of a management plan to include regular clinical evaluation, assessment of developmental milestones and annual ophthalmologic examination to enable early or preventive [onlinelibrary.wiley.com]

[…] examinons les donnees indiquant que la schizophrenie ap... more The mental well-being of humans depends on the discovery of the causes of mental illnesses and the use of this knowledge to direct the generation of new treatments and the development of preventive [scinapse.io]

[…] of different sources are used :  Registries (RARECARE, EUROCAT, etc) ;  National/international health institutes and agencies (Institut National de Veille Sanitaire (French Institute of Health Surveillance); American Center of Disease Control and Prevention [azkurs.org]