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cornelia de lange syndrome - rare congenital disorder with delayed development and multiple abnormalities Definition for Cornelia de Lange Syndrome Cornelia de Lange Syndrome aka CdLS is a little-known genetic disorder that can lead to severe developmental anomalies. more Cornelia de Lange Syndrome aka CdLS is a little-known genetic disorder that can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. less some common symptoms cognitive defect delayed development hyperactive behavior short stature some related diagnoses 1 - 7 of 20 diagnoses fetal alcohol syndrome human immunodeficiency virus infections drugs and toxins Hartnup disease urea cycle disorders malnutrition meningitis   more do i have 'Cornelia de Lange Syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'cornelia de lange syndrome' 1 - 5 of 19 diagnostic tests Chromosomal analysis Cornelia de Lange Syndrome and Chromosomal analysis Blood, Platelet Count Platelet Count Cornelia de Lange Syndrome and Blood, Platelet Count Complete Blood Count Cornelia de Lange Syndrome and Complete Blood Count ECHOcardiogram Cornelia de Lange Syndrome and ECHOcardiogram Hearing test standard technique of representing hearing loss Cornelia de Lange Syndrome and Hearing test Ultrasonography kidneys ureter bladder Cornelia de Lange Syndrome and Ultrasonography kidneys ureter bladder X-rays Cornelia de Lange Syndrome and X-rays Molecular Genetic Studies Cornelia de Lange Syndrome and Molecular Genetic Studies Adrenocorticotropic Hormone (ACTH) adrenocorticotropin hormone secreted by pituitary gland Cornelia de Lange Syndrome and Adrenocorticotropic Hormone (ACTH) Follicular Stimulating Hormone (FSH) Cornelia de Lange Syndrome and Follicular Stimulating Hormone (FSH) Growth hormone Cornelia de Lange Syndrome and Growth hormone Leuteinizing hormone (LH) Cornelia de Lange Syndrome and Leuteinizing hormone (LH) Serum Cortisol Cornelia de Lange Syndrome and Serum Cortisol Serum Prolactin Cornelia de Lange Syndrome and Serum Prolactin Serum T4 free Cornelia de Lange Syndrome and Serum T4 free Serum TSH Cornelia de Lange Syndrome and Serum TSH Developmental testing Cornelia de Lange Syndrome and Developmental testing Serum T3 Cornelia de Lange Syndrome and Serum T3 speech reception threshold (SRT) Cornelia de Lange Syndrome and speech reception threshold (SRT) for more please login, login is free (click to login) therapeutic procedures for 'Cornelia de Lange Syndrome'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Cornelia de Lange Syndrome: therapeutic procedure search results for 'cornelia de lange syndrome' 1 - 3 of 3 therapeutic procedures rankings are computer generated. please consult your health care provider. Craniofacial reconstruction Cornelia de Lange Syndrome and Craniofacial reconstruction Special Education Cornelia de Lange Syndrome and Special Education Speech Therapy Cornelia de Lange Syndrome and Speech Therapy medications search results for 'cornelia de lange syndrome' rankings are computer generated. please consult your health care provider. web search results for cornelia de lange syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Cornelia de Lange Syndrome Cornelia de Lange Syndrome - Wikipedia, the free encyclopedia Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of ... Development of Diagnostics and Therapeutics for Cornelia de Lange Syndrome ... http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome   en.wikipedia.org - summary Cornelia de Lange syndrome - Genetics Home Reference Cornelia de Lange syndrome is a developmental disorder that affects many parts of ... Mutations in the NIPBL, SMC1A, and SMC3 genes cause Cornelia de Lange syndrome. ... http://ghr.nlm.nih.gov/condition=corneliadelangesyndrome   ghr.nlm.nih.gov - summary Cornelia de Lange Syndrome - Yahoo! Health Important It is possible that the main title of the report Cornelia de Lange Syndrome is not the name you expected. Please check the synonyms listing to find the ... http://health.yahoo.com/other-other/cornelia-de-lange-syndro...   health.yahoo.com - summary CORNELIA DE LANGE SYNDROME - Pedbase.org Cornelia de Lange Syndrome Foundation, Inc. Amanda's Room. Ocular Manifestations of Cornelia de Lange Syndrome. Kayla's Web Site ... http://pedbase.org/c/cornelia-de-lange-syndrome/   pedbase.org - summary Cornelia de Lange Syndrome -- GeneReviews -- NCBI Bookshelf Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, ... Cornelia de Lange syndrome is inherited in an autosomal dominant manner or an ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cdls   www.ncbi.nlm.nih.gov - summary Orphanet: Cornelia de Lange syndrome Cornelia de Lange syndrome. Orpha number. ORPHA199. Prevalence of rare ... Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=199   www.orpha.net - summary Cornelia de Lange syndrome - References - Genetics Home Reference Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of ... Dominant paternal transmission of Cornelia de Lange syndrome: a new case and ... http://ghr.nlm.nih.gov/condition=corneliadelangesyndrome/show/References   ghr.nlm.nih.gov - summary Cornelia de Lange syndrome--photo essay. ... Dysmorphol. 1993 Apr;2(2):151-60. Cornelia de Lange syndrome--photo essay. ... Cornelia de Lange syndrome is a rare developmental malformation syndrome characterized ... http://www.ncbi.nlm.nih.gov/pubmed/8281279   www.ncbi.nlm.nih.gov - summary Cornelia de Lange syndrome - MedlinePlus - Health information ... Genetic Conditions > Cornelia de Lange syndrome > MedlinePlus - Health information ... in the Genetics Home Reference condition summary on Cornelia de Lange syndrome. ... http://ghr.nlm.nih.gov/condition=corneliadelangesyndrome/show/MedlinePlus   ghr.nlm.nih.gov - summary Cornelia de Lange syndrome is caused by mutations in NIPBL, the human ... Cornelia de Lange syndrome is caused by mutations in NIPBL, the human ... Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem ... http://www.ncbi.nlm.nih.gov/pubmed/15146186   www.ncbi.nlm.nih.gov - summary Cornelia de Lange syndrome - OMIM - Genetic disorder catalog - Genetics ... Genetic Conditions > Cornelia de Lange syndrome > OMIM - Genetic disorder catalog ... in the Genetics Home Reference condition summary on Cornelia de Lange syndrome. ... http://ghr.nlm.nih.gov/condition=corneliadelangesyndrome/show/OMIM   ghr.nlm.nih.gov - summary Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic ... Prenatal diagnosis of this severe condition is difficult in view of the non ... http://www.ncbi.nlm.nih.gov/pubmed/19242925?ordinalpos=8&ito...   www.ncbi.nlm.nih.gov - summary Cornelia de Lange syndrome - Related Gene(s) - Genetics Home Reference Genetic Conditions > Cornelia de Lange syndrome > Related Gene(s) ... Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/condition=corneliadelangesyndrome/show/Related+Gene(s)   ghr.nlm.nih.gov - summary Deletion of 8p23.1 with features of Cornelia de Lange syndrome and ... A further locus for Cornelia de Lange syndrome. Baynam G, Goldblatt J, ... Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism; hirsutism; ... http://www.ncbi.nlm.nih.gov/pubmed/18470924?ordinalpos=34&it...   www.ncbi.nlm.nih.gov - summary Cornelia de Lange syndrome - Patient support - For patients and ... ... Reference condition summary on Cornelia de Lange syndrome. ... Cornelia de Lange Syndrome Foundation. Family Village. National Organization for Rare Disorders ... http://ghr.nlm.nih.gov/condition=corneliadelangesyndrome/show/Patient+support   ghr.nlm.nih.gov - summary Cornelia De Lange - Yahoo! Health Provides support and education to families affected by Cornelia de Lange syndrome. ... Cornelia de Lange Syndrome Fdn. 302 West Main St., Suite 100. Avon, CT 06001 ... http://health.yahoo.com/other-other/cornelia-de-lange/healthwise--shc29cor.html   health.yahoo.com - summary X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Cornelia de Lange syndrome is a multisystem developmental disorder characterized by ... De Lange Syndrome/genetics* Female. Genetic Diseases, X-Linked/genetics ... http://www.ncbi.nlm.nih.gov/pubmed/16604071   www.ncbi.nlm.nih.gov - summary Cornelia de Lange Syndrome Important It is possible that the main title of the report Cornelia de Lange Syndrome is not the name you expected. ... http://www.webmd.com/children/Cornelia-de-Lange-Syndrome   www.webmd.com - summary MedlinePlus Medical Encyclopedia: Webbing of the fingers or toes Apert syndrome. Carpenter syndrome. Cornelia de Lange syndrome. Pfeiffer syndrome. Smith-Lemli-Opitz syndrome ... define a specific syndrome or condition. ... http://www.nlm.nih.gov/medlineplus/ency/article/003289.htm   www.nlm.nih.gov - summary Webbing of the fingers or toes Apert syndrome. Carpenter syndrome. Cornelia de Lange syndrome. Pfeiffer syndrome. Smith-Lemli-Opitz syndrome ... define a specific syndrome or condition. ... http://adam.about.com/encyclopedia/Webbing-of-the-fingers-or-toes.htm   adam.about.com - summary Prevalence of autism spectrum phenomenology in Cornelia de Lange and ... Twenty-one participants with Cornelia de Lange syndrome (61.8%) scored above the ... spectrum disorder characteristics is heightened in Cornelia de Lange syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/18564888?ordinalpos=153&i...   www.ncbi.nlm.nih.gov - summary Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange ... Little is known about the neuropathology of Cornelia de Lange syndrome. ... of cerebral malformation combined with Cornelia de Lange syndrome in a 5-year-old ... http://www.ncbi.nlm.nih.gov/pubmed/8960322?ordinalpos=16&ito...   www.ncbi.nlm.nih.gov - summary MedlinePlus Medical Encyclopedia: Microcephaly Cornelia de Lange syndrome. Cri du chat syndrome. Down syndrome. Rubinstein-Taybi syndrome. Seckel syndrome. Smith-Lemli-Opitz syndrome. Trisomy 13. Trisomy 18 ... http://www.nlm.nih.gov/medlineplus/ency/article/003272.htm   www.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Cornelia de Lange Syndrome. Cornel-Netherton ... http://www.webmd.com/a-to-z-guides/health-topics/ck-co.htm   www.webmd.com - summary Microcephaly Cornelia de Lange syndrome. Cri du chat syndrome. Down syndrome. Rubinstein-Taybi syndrome. Seckel syndrome. Smith-Lemli-Opitz syndrome. Trisomy 13. Trisomy 18 ... http://adam.about.com/encyclopedia/Microcephaly.htm   adam.about.com - summary Encyclopedia C-Cz on Yahoo! Health Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, ... Cornelia De Lange. Cornelia de Lange Syndrome. Coronary ... http://health.yahoo.com/ency/c/   health.yahoo.com - summary Talk:Cornelia de Lange Syndrome - Wikipedia, the free encyclopedia Talk:Cornelia de Lange Syndrome. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... This article is within the scope of WikiProject Medicine. ... http://en.wikipedia.org/wiki/Talk:Cornelia_de_Lange_Syndrome   en.wikipedia.org - summary NIPBL - References - Genetics Home Reference ... Cornelia de Lange Syndrome ... Cornelia de Lange syndrome is caused by mutations in NIPBL, the ... Strachan T. Cornelia de Lange Syndrome and the link between chromosomal ... http://ghr.nlm.nih.gov/gene=nipbl/show/References   ghr.nlm.nih.gov - summary (External) PubMed Abstract A Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and ... 96 Cornelia de Lange syndrome (CdLS), also known as Brachmann-de Lange syndrome, is ... http://www.ncbi.nlm.nih.gov/pubmed/17508425?ordinalpos=2&ito...   www.ncbi.nlm.nih.gov - summary Chromosome 5 - Conditions related to genes on chromosome 5 - Genetics ... Cockayne syndrome. congenital contractural arachnodactyly. Cornelia de Lange syndrome. craniometaphyseal dysplasia. cri-du-chat syndrome. Crohn disease ... http://ghr.nlm.nih.gov/chromosome=5/show/Conditions   ghr.nlm.nih.gov - summary MedlinePlus: Birth Defects Congenital Rubella Syndrome(Children's Hospital Boston) ... Craniofacial Syndrome Descriptions ... FAQs about CdLS(Cornelia de Lange Syndrome Foundation) ... http://www.nlm.nih.gov/medlineplus/birthdefects.html   www.nlm.nih.gov - summary Bones, muscles, and connective tissues - Genetics Home Reference ... Cornelia de Lange syndrome ... Cornelia de Lange syndrome. CDS see Chanarin-Dorfman syndrome ... Cornelia de Lange syndrome. CPT2 see carnitine palmitoyltransferase 2 ... http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/bonesmu...   ghr.nlm.nih.gov - summary Search for genomic imbalances in a cohort of 24 Cornelia de Lange ... ... in a cohort of 24 Cornelia de Lange patients negative for mutations in the ... Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental ... http://www.ncbi.nlm.nih.gov/pubmed/18798846?ordinalpos=3&ito...   www.ncbi.nlm.nih.gov - summary Brain and nervous system - Genetics Home Reference BDLS see Cornelia de Lange syndrome. benign essential tremor see essential tremor ... CDLS see Cornelia de Lange syndrome. CED see Camurati-Engelmann disease ... http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/brainandnervoussystem   ghr.nlm.nih.gov - summary MedlinePlus: Developmental Disabilities Angelman Syndrome(National Institute of Neurological Disorders and Stroke) ... Genetics Home Reference: Cornelia de Lange syndrome(National Library of Medicine) ... http://www.nlm.nih.gov/medlineplus/developmentaldisabilities.html   www.nlm.nih.gov - summary Neurologic Diseases - Genetics Home Reference congenital central hypoventilation syndrome. Cornelia de Lange syndrome. cri-du-chat syndrome ... Menkes syndrome. metachromatic leukodystrophy ... http://ghr.nlm.nih.gov/medlineplusTopic=neurologicdiseases   ghr.nlm.nih.gov - summary Roberts Syndrome -- GeneReviews -- NCBI Bookshelf Cornelia de Lange syndrome (CdLS), characterized by distinctive facial features, ... Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rbs   www.ncbi.nlm.nih.gov - summary Seckel syndrome - Wikipedia, the free encyclopedia The Seckel syndrome or microcephalic primordial dwarfism is a congenital ... syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan ... http://en.wikipedia.org/wiki/Seckel_syndrome   en.wikipedia.org - summary Abstract ... The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 ... and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample ... http://www.ncbi.nlm.nih.gov/pubmed/17845236   www.ncbi.nlm.nih.gov - summary 17850398 2007 09 20 2008 01 25 0803-5253 96 10 2007 Oct Acta Paediatr ... Coeliac disease and Cornelia de Lange syndrome: lack of association. 1518-20 OBJECTIVES: Cornelia de Lange syndrome (CdLS) is a dominantly inherited ... http://www.ncbi.nlm.nih.gov/pubmed/17850398   www.ncbi.nlm.nih.gov - summary Chromosome 10 - Conditions related to genes on chromosome 10 - Genetics ... Apert syndrome. autosomal dominant partial epilepsy with auditory features ... Cockayne syndrome. Cornelia de Lange syndrome. Cowden syndrome. Crouzon syndrome ... http://ghr.nlm.nih.gov/chromosome=10/show/Conditions   ghr.nlm.nih.gov - summary Vici syndrome - Wikipedia, the free encyclopedia Vici syndrome is a rare autosomal recessive congenital disorder ... syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan ... http://en.wikipedia.org/wiki/Vici_syndrome   en.wikipedia.org - summary Orphanet: Cornelia de Lange syndr Cornelia de Lange syndrome. Orpha number. ORPHA199. Prevalence of rare ... Cornelia de Lange syndrome (CdLS) is a syndrome with variable expression marked by a ... http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=E...   www.orpha.net - summary X chromosome - Conditions related to genes on the X chromosome ... ... Lowry syndrome. color ... Cornelia de Lange syndrome. deafness-dystonia-optic ... polyendocrinopathy, enteropathy, X-linked syndrome. incontinentia pigmenti ... http://ghr.nlm.nih.gov/chromosome=X/show/Conditions   ghr.nlm.nih.gov - summary Heart and circulation - Genetics Home Reference BDLS see Cornelia de Lange syndrome ... CDLS see Cornelia de Lange syndrome. Ceramide trihexosidase deficiency see Fabry disease ... http://ghr.nlm.nih.gov/conditionCategory=heartandcirculation   ghr.nlm.nih.gov - summary OMIM Update List for April, 2006 300590 CORNELIA DE LANGE SYNDROME, X-LINKED ... 122470 CORNELIA DE LANGE SYNDROME; CDLS. 153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2006   www.ncbi.nlm.nih.gov - summary Zellweger syndrome - Wikipedia, the free encyclopedia GeneReviews: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum ... syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan ... http://en.wikipedia.org/wiki/Zellweger_syndrome   en.wikipedia.org - summary SMC1A - References - Genetics Home Reference ... and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. ... Gene Review: Cornelia de Lange Syndrome ... http://ghr.nlm.nih.gov/gene=smc1a/show/References   ghr.nlm.nih.gov - summary OMIM Update List for May, 2004 122470 CORNELIA DE LANGE SYNDROME 1; CDL1. 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS ... 122470 CORNELIA DE LANGE SYNDROME 1; CDL1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.2004   www.ncbi.nlm.nih.gov - summary MICROCEPHALY - Pedbase.org Aicardi Syndrome. Beckwith-Wiedemann Syndrome. Bloom Syndrome. Cohen Syndrome. Cornelia de Lange ... Dubowitz Syndrome. Rubinstein-Taybi Syndrome. Smith-Lemli ... http://www.pedbase.org/m/microcephaly   www.pedbase.org - summary show more 1  2