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This tool allows you to search SNOMED CT and is designed for educational use only. SourceGeneReviews® [Internet].

You may want to review these resources with a medical professional. They may be able to refer you to someone they know through conferences or research efforts. Get the latest research information from NIH: (link is external). We also use third-party cookies that help us analyze and understand how you use this website. All mutations identified are de novo.

- Koolen De Vries syndrome (disorder) - Koolen De Vries syndrome Hide descriptions. 2010 Jan 26 [updated 2013 Jan 10].

A condition in which children laugh frequently for almost any reason and whose jerky movements and flapping of the hands are similar to those of a marionette, or puppet-- hence the synonym "happy puppet syndrome." 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.

Autosomal recessive syndrome characterized by jerky puppetlike movements, frequent laughter, mental and motor retardation, peculiar open-mouthed faces, and seizures.


Most cases of Koolen-de Vries syndrome are caused by the loss of a small cromosomal region (microdeletion) which leads to monosomy 17q21.31.

We also encourage you to explore the rest of this page to find resources that can help you find specialists. This website uses cookies to improve your experience while you navigate through the website. Required fields are marked *. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. ICD9 and ICD10 codes of Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome Your answer Your email address will not be published. (IHTSDO).

Do you have updated information on this disease? The symptoms of Koolen–de Vreis syndrome can be very variable, and there is no single clinical sign required to establish the diagnosis. September 1, 2020, NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community We want to hear from you. Nat Genet. 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. These resources provide more information about this condition or associated symptoms. The recurrent deletion is between 500 and 650 kilobases (Kb) in size encompassing at least six genes, among them the microtubule-associated protein tau (MAPT).

As an alternative, CNV detection by specific algorithms applied on exome sequencing data can be used to infer the presence of the 17q21.31 microdeletion. PMID 22293690, KANSL1-Related Intellectual Disability Syndrome. The differential diagnosis of Koolen-de Vries syndrome is mainly with Prader-Willi syndrome in the early stages and with velo-cardio-facial syndrome at a later age. Wright EB, Donnai D, Johnson D, Clayton-Smith J. Clin Dysmorphol. ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities ; Q90-Q99 Chromosomal abnormalities, not elsewhere classified ; Monosomies and deletions from the autosomes, not elsewhere classified Q93 Monosomies and deletions from the autosomes, not elsewhere classified Q93- For most diseases, symptoms will vary from person to person. We'll assume you're ok with this, but you can opt-out if you wish. Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Penetrance of the disorder is 100%, while extent and severity of clinical features is variable. “SNOMED” and “SNOMED CT” are registered trademarks of the IHTSDO. The 17q21.31 Research Project aims to better characterize the clinical … Eur J Hum Genet. The prevalence of Koolen-de Vries syndrome is estimated in 1:16,000. Other clinically important features include epilepsy, heart defects (atrial septal defect, ventricular septal defect) and kidney/urological anomalies. Mutaciones en el gen KANSL1, que resultan en la pérdida de la función de este gen, o por; Pérdida (deleción) de una pequeña cantidad de material genético (microdeleción) del cromosoma 17, que incluye el gen KANSL1.La mayoría de los casos se deben a la microdeleción. The recurrence risk of microdeletion 17q21.31 is low, but cases of recurrence is siblings has already been reported in independent families. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. All the following genes are usually lost because of the microdeletion:  C17orf69, CRHR1, IMP5, MAPT, STH and KANSL1 (previously known as KIAA1267).

Koolen DA, de Vries BBA.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. PMID 20301783. The 2021 edition of ICD-10-CM Q93.5 became effective on October 1, 2020.

In this context, annotation back-references refer to codes that contain: This is the American ICD-10-CM version of, Codes from this chapter are not for use on maternal records. Your email address will not be published. all the symptoms listed. (HPO) . expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Autosomal dominant hereditary disorder (disorder), Multiple malformation syndrome with facial defects as major feature (disorder). H02121 Koolen-De Vries syndrome Human diseases in ICD-11 classification [BR:br08403] 20 Developmental anomalies Chromosomal anomalies, excluding gene mutations LD44 Deletions of the autosomes H02121 Koolen-De Vries syndrome The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. SNOMED CT® was originally created by The College of American Pathologists.

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