Silvery depigmentation of strands of hair have been noted in several patients. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. ICD9 and ICD10 codes of Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome Your answer other disorders include a peculiar facial expression, mental retardation, movement disorders, microbrachycephaly, and various neurological disorders. [11], Treatment centres around the symptoms in each individual and can include: early physiotherapy for feeding and motor problems, physiotherapy for strengthening the muscles, speech therapy, sign language, pictures or computer touchscreens for communication, special education, routine antiepileptic medications, orthopaedic care for scoliosis, hip dislocation and positional deformities of the feet, treatment for cardiac, renal, urologic and other medical issues and surgery for cryptorchidism if indicated. However, because people with, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Human Phenotype Ontology “SNOMED” and “SNOMED CT” are registered trademarks of the IHTSDO. Do you have updated information on this disease? Chiari malformation type I has been reported in one case. For most diseases, symptoms will vary from person to person. 17q21.31 microdeletion syndrome, also known as Koolen–de Vries syndrome (KdVS), is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. This information comes from a database called the Human Phenotype Ontology This category only includes cookies that ensures basic functionalities and security features of the website. Penetrance of the disorder is 100%, while extent and severity of clinical features is variable. All rights reserved. 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. Differential diagnoses include Prader-Willi syndrome in the neonatal period and 22q11.2 deletion syndrome, fragile X syndrome, Angelman syndrome and blepharophimosis-intellectual disability syndrome, SBBYS type in older patients. These cookies do not store any personal information. http://ghr.nlm.nih.gov/condition=17q2131microdeletionsyndrome, https://www.ncbi.nlm.nih.gov/books/NBK24676/, https://www.ncbi.nlm.nih.gov/pubmed/26897099, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96169. Most cases of Koolen-de Vries syndrome are caused by the loss of a small cromosomal region (microdeletion) which leads to monosomy 17q21.31. This material includes SNOMED Clinical Terms® The 2021 edition of ICD-10-CM Q93.5 became effective on October 1, 2020. It has been suggested that the syndrome is currently underestimated (see also differential diagnosis). All the following genes are usually lost because of the microdeletion:  C17orf69, CRHR1, IMP5, MAPT, STH and KANSL1 (previously known as KIAA1267). rare disease research! Werden Sie Botschafter und beantworten Sie sie ICD9 und ICD10 Present usually are skull and other abnormalities, frequent infantile spasms (spasms, infantile); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ataxia; muscle hypotonia; and a peculiar facies. Contact a GARD Information Specialist. SourceGeneReviews® [Internet]. 17q21.31 microdeletion syndrome, also known as Koolen–de Vries syndrome (KdVS), is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. This tool allows you to search SNOMED CT and is designed for educational use only. 2011 Jan;20(1):15-20. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. [10] An overview of the clinical features of the syndrome, by reviewing 22 individuals with a 17q21.31 microdeletion, estimated the disorder is present in 1 in every 16,000 people.[5]. Specific facial dysmorphisms include tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Wright EB, Donnai D, Johnson D, Clayton-Smith J. Clin Dysmorphol. Percent of people who have these symptoms is not available through HPO, A 17q21.31 microdeletion involving at least, Physical therapy aimed at strengthening the muscles, Therapy to improve development of the child's fine and gross motor skills, Speech therapy, sign language, pictures and computer touch screens aiming to improve communication skills, Educational programming directed to the specific disabilities identified, Standard treatment for cardiac, renal, urologic, and other medical issues, To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Face elongation increases with age. The analysis can be done by FISH (to detect the microdeletion) or by sequencing (to detect the KANSL1 mutation). A health care provider may consider these conditions in the table below when making a diagnosis. Chromosome 17q21.31 deletion syndrome, also known as Koolen-de Vries syndrome, is a clinically recognizable multisystem disorder characterized by mild- to-moderate intellectual disability, hypotonia, and characteristic dysmorphic facial features. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. The 17q21.31 Research Project aims to better characterize the clinical … Summary. Do you know of a review article? Online Mendelian Inheritance in Man (OMIM), Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases, NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community, NCATS Translational Approach Addresses COVID-19. 10 Genes It has been shown that a change in KANSL1 is sufficient to cause Koolen-De Vries syndrome. If you do not want your question posted, please let us know. In about 50% to 75% of the cases the following symptoms may be present: Joints that are too flexible (hypermobility) and/or joint dislocation or deformation. This deletion syndrome was discovered independently in 2006 by three different research groups.[1][2][3][4][5][6][7][8][9]. 2 Koolen-de Vries syndrome Koolen-de Vries syndrome [you pronounce Vries as ‘freeze’] is a rare genetic condition caused by the loss of part of chromosome 17 (17q21.31 microdeletion) including the gene called KANSL1, or by a change in the KANSL1 gene (Zollino 2012; Koolen 2012). [1][2][3] In 2007, a patient with a small duplication in same segment of DNA was described. The 900 kb polymorphic inversion inone of the parents may predispose to Non-Allelic Homologous Recombination (NHAR), which then leads to the microdeletion.

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