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International Growth List

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International Growth List ! Preface Causes of Disrupons in Children’s Growth Scienfic Evidence Advancements in technology, clinical research, and high speed informa'on sharing have collec'vely facilitated the discovery of an unprecedented amount of informa'on pertaining to the gene'c causes of children’s growth failure, overgrowth or other growth irregulari'es. For decades, scien'sts have been mapping out the millions of human gene'c details in discovery. During this process they iden'fied diseases/syndromes which are apparent in a child who displays all of the characteris'cs (“classic” form) of that syndrome. Other children may have the same syndrome but in a “par'al” form. There are typically mul'ple varie'es of the par'al forms. It is a complicated discovery and cataloguing process which con'nues to this day. The varia'on of characteris'cs within each syndrome means that growth irregulari'es may be the result of a variety of mechanisms. As you will note in the categories within this document, some children have issues which are (non-syndromic) and do not yet have a “name” but have a list of characteris'cs of which growth is listed as a condi'on. Therefore, those “un-named” syndromes are listed in the Alphabe'cal list contained herein. What does this increase in knowledge do for families and growth affected children? Poten'ally, gene'c explana'ons can afford physicians an opportunity to iden'fy causes for growth failure or overgrowth at a much younger age. If treatments are available for the iden'fied medical cause, ini'a'ng therapies as soon as possible could change the child’s future and health for his/her en're life'me. Changing Public Misconcep'ons There are many assump'ons surrounding children’s growth. It is generally believed that if we “wait and see” … a child who is small will eventually catch up to his/her peers. The opposite side of growth issues pertains to a child who is excep'onally tall for his/her age, par'cularly if the child is male. Parents and other caregivers oTen consider overgrowth as a “benefit” rather than a health warning. As a major sign of health, a child’s growth paVern is NOT simply a cosme'c or appearance issue. Children’s growth should be checked annually and regarded with serious considera'on. NO irregular growth (too much or too lile) is safe for children if it is caused by a hidden medical issue. ICOSEP is a coali'on of pa'ent organiza'ons represen'ng various “growth” condi'ons. Governments, medical socie'es and others have endorsed and supported ICOSEP and our educa'onal ini'a've. We have one goal: to share a simple truth about children’s growth so that children throughout the country may be iden'fied with enough 'me to intervene for their best life'me of health. Join us! Each year, on September 20th, we share one message via our annual Children’s Growth Awareness educa'onal ini'a've. Materials are downloadable and free for this campaign use. Visit: hVp://icosep.org and click the Growth Awareness Day tab for more details. Table of Contents !2 Sec/on 1 Alphabe'zed list of Medical Condi'ons Impac'ng Children’s Growth Page 4-109 Sec/on 2 Itemized Summary Search Lists for: Decreased Serum IGF-1 Associated Diseases Page 109 IGF-1 Diseases Page 109 Dispropor'onate Short Limb Associated Diseases Page 110-115 Dispropor'onate Short Stature Diseases Page 116-122 Dispropor'onate Short Trunk Short Stature Page 122-123 Dysplasia’s Page 123-126 Propor'onate Short Stature Associated Diseases Page 125-130 Growth Hormone Deficiency Page 130-133 Growth Hormone Deficiency (Monarch search example) Page 133-138 Secondary Growth Hormone Deficiency Page 138-139 Pituitary Dwarfism Associated Diseases Page 139 Growth Hormone Excess Page 140 Precocious Puberty Page 141-150 Sec/on 3 Cross-referenced Master List with URL Informa'on and Notes Page 151-432 Sec/on 4 Alphabe'zed Resources Page 432-434 Legal No'ce Page 435 !3 Alphabe/zed List of Growth Impac/ng Diagnoses Contains all syndrome/condi'on names (including AkA names from the detailed list in Sec'on 3). 1 10q Duplicaon 2 10q Trisomy 3 12q Duplicaon 4 12q Trisomy 5 13q Dele'ons (various) Overview 6 14q Dele'ons Between 14q22 and 14q32 7 14q Dele'ons Proximal to 14q22 8 14q22q23 Microdele'on Syndrome 9 15q13.3 Microdele'on Syndrome 10 16p13.11 Microdele'on Syndrome 11 17p13.3 Microduplica'on Syndrome 12 17q Deleon 13 17q Monosomy 14 17q11 Microdele'on Syndrome 15 17q11.2 Microduplica'on Syndrome 16 18q Deleon Syndrome; Deleons from 18q11.2 to 18q21.2 17 19 XLMR 18 1p36 Deleon Syndrome 19 1q Duplicaon 20 1q Trisomy 21 1q21.1 Deleon Syndrome 22 1q21.1 Microdele'on 23 1q21.1 Microduplica'ons 24 1q24q25 Microdele'on Syndrome 25 1q41-q42 Deleon Syndrome 26 1q41-q42 Microdele'on Syndrome 27 1-Spondylometaphyseal Dysplasia - Sutcliffe Type 28 20p12.3 Microdele'on Syndrome 29 21q Deleon Syndrome !4 30 22q11.2 Deleon Syndrome 31 22q13 Microdele'on Syndrome 32 22q13.3 Deleon Syndrome 33 2-Spondylometaphyseal Dysplasia Axial 34 3C Syndrome 35 3M Syndrome 36 3MC Syndrome 37 3-Methylglutaconic Aciduria Type II 38 3p Deleon 39 3p Duplicaon 40 3p Monosomy 41 3p- Syndrome 42 3p Trisomy 43 3q26.33-3q28 Microdele'on 44 3-Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 45 4 H Syndrome 46 4p Deleon 47 4p Monosomy 48 4q Dele'on Syndrome, Par'al 49 4q Monosomy 50 4q28.1 51 5p Monosomy 52 5p Par'al Monosomy Syndrome 53 5p Syndrome 54 5p13 Microduplica'on Syndrome 55 6-Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 56 8p Inverted Duplica'on/Dele'on Syndrome 57 8p- Syndrome, Par'al 58 8q Deleon 59 8q Monosomy 60 8q13 Microdele'on Syndrome 61 9p Par'al Monosomy !5 62 9p13.3-p13.
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