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Cri du chat syndrome wiki

Cri-Du-Chat Syndrome - RIT Wik

  1. Cri-Du-Chat syndrome occurs when a child has a piece of chromosome number 5 missing. The name Cri-Du-Chat comes from the french for Cry of the cat
  2. Cri du Chat, resulting from missing a piece of chrosome 5, is based on the cry of an infant, which sounds like a cat and is high-pitched. Cri du chat syndrome is rare, and results from one missing piece, called TERT (telomerase reverse transcriptase)
  3. us syndrome Distinctive kitten-like cry in infancy Cri-du-chat syndrome is an autosome disorder caused by partial deletion (loss) of part of human Chromosome 5 (known as 5p-). This chromosome error occurs during fetal development and is not inherited
  4. Geneticist Jerome Lejeune identified cri-du-chat syndrome in 1963 and is also known as 5P Minus Syndrome, Jerome Lejeune 's Syndrome and Cat's-cry Syndrome. The name is French for cry of the cat, which refers to the characteristic cry of children with this disorder. The cry is caused by an abnormal development of a child's larynx
  5. us) or Lejeune's syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5. Its name is a French term (cat-cry or call of the cat ) referring to the characteristic cat-like cry of affected children

For example, Cri du chat syndrome involves a deletion on the short arm of chromosome 5. It is written as 46,XX,5p-. The Some disorders arise from loss of just a piece of one chromosome, including Cri du chat (cry of the cat), from a truncated 1p36 Deletion syndrome, from the loss of part of the short arm of chromosome 1.Angelman syndrome - 50% of cases have a segment. Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome 5. The cause of this rare chromosomal deletion is unknown. What are the symptoms of cri du chat syndrome Cri Du Chat Syndrome. Cri Du Chat Syndrome It is caused by a deletion within chromosome 5, which causes a differentiated development than expected. Aside from cryptorchidism, other symptoms typically (but not always). กลุ่มอาการครี-ดูว์-ชา (อังกฤษ: Cri-du-chat syndrome) เป็นโรคพันธุกรรมชนิดหนึ่งเกิดจากการหลุดหายของส่วนหนึ่งของแขนข้างสั้นของโครโมโซมคู่ที่ 5 การหลุดหาย. Cri du chat syndrome is due to a missing piece (deletion) of a specific part of chromosome 5 known as the 'p' arm. In general, the severity of the symptoms is determined by the size and location of the deletion on chromosome 5

Feb 26, 2019 · Cri du Chat syndrome (CdC) (OMIM 123450, ORPHA281) is a rare disorder due to a deletion of part of the short arm of chromosome 5 Ideal sources for Wikipedia's health content are defined in the guideline Wikipedia:Identifying reliable sources (medicine) and are typically review articles.Here are links to possibly useful sources of information about Cri du chat syndrome.. PubMed provides review articles from the past five years (limit to free review articles); The TRIP database provides clinical publications about. cri du chat syndrome. Definition from Wiktionary, the free dictionary. Jump to navigation Jump to search. English Etymology . From French cri du chat.

Media in category Cri du chat syndrome The following 2 files are in this category, out of 2 total Sindrom tangisan kucing, disebut juga Sindrom Cri du Chat atau Sindrom Lejeune, adalah suatu kelainan genetik akibat adanya delesi (hilangnya sedikit bagian) pada lengan pendek kromosom nomor 5 manusia. Manusia yang lahir dengan sindrom ini akan mengalami keterbelakangan mental dengan ciri khas suara tangis yang menyerupai tangisan kucing. Individu dengan sindrom ini bisanya meninggal ketika.

Cri du chat syndrome is a chromosomal disorder caused by a partial deletion (monosomy) of a varying length of the short arm (p) of chromosome 5. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual 1 Genetic Disease Project 2 Requirements 3 Grading 4 Disease Pages 4.1 Turners Syndrome 4.2 Angelman Syndrome 4.3 Cri du Chat 4.4 Cystic Fibrosis 4.5 Down Syndrome 4.6 Duchenne Muscular Dystrophy 4.7 Kleinfelter's syndrome 4.8 Phenylketonuria 4.9 Prader-Willi Syndrome 4.10 Sickle-Cell Anemia 4.11 Tay- Sachs 4.12 Marfan Syndrome 4.13 == 4.14 Huntingtons Disease In this project you will be. Cri du chat syndrome is a rare genetic disorder caused by a missing section on a particular chromosome known as Chromosome 5. Sometimes, material from another chromosome is missing as well. Around one in every 50,000 or so babies is diagnosed with this disorder A Síndrome Cri-du-chat ou Miado/Choro do gato é uma condição genética relativamente rara (calculada de 1 em cada 50 000 nascimentos), resultante da deleção (eliminação) parcial do material genético do braço curto de um dos pares do cromossomo cinco, ocasionalmente estando um segundo cromossomo envolvido Cri du chat syndrome (French for Cry or call of the cat refering to the specific cry of the child), also called deletion 5p syndrome,5p minus or Le Jeune's syndrome, is a rare genetic disorder due to a missing portion of chromosome 5.It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 20,000 to 50,000 live births

The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe 猫叫综合症(英語: Cri du chat syndrome ),也称貓哭症、貓啼症、5號染色體短臂缺失症候群( chromosome 5p deletion syndrome ),是一種由於第五號染色體短臂缺損而引起的罕見基因異常病症。 患病婴儿的哭聲特別,似貓啼,因而得名;其英文名稱係借自法語 cri du chat ,意即「貓哭」或「貓叫」 Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p- (said minus) syndrome or Lejeune's syndrome, is a rare genetic disorder due to a missing part (deletion) of chromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children Cri du chat syndrome (CdCS) is a complex disorder involving the loss of the distal portion of the short arm of chromosome 5. Telomerase - Wikipedia Frances, who is two years younger than Whiley, suffers from Cri du chat genetic syndrome Documentary to spread awareness about Cri Du Chat for a benefit concert held in 2013. - Check out Leah on Instagram @loving_you_big- See Emily's other work a..

Cri du chat -oireyhtymä on harvinainen geneettinen häiriö, joka johtuu osittaisesta kromosomin deleetiosta kromosomissa 5 .Sen nimi on ranskalainen termi (kissan itku tai kissan kutsu ), joka viittaa sairastuneiden lasten tyypilliseen kissan kaltaiseen itkuun .Sen kuvaili ensimmäisen kerran Jérôme Lejeune vuonna 1963. Ehto vaikuttaa arviolta 1: een 50 000 elävänä syntyneestä. Overview. Cri du chat syndrome (French for Cry or call of the cat refering to the specific cry of the child), also called deletion 5p syndrome,5p minus or Le Jeune's syndrome, is a rare genetic disorder due to a missing portion of chromosome 5.It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 20,000 to 50,000 live births

Cri du Chat Syndrome Human Genetic Disorders Wiki Fando

Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone. Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted. Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. Common symptoms include a distinctive cry that resembles the mewing of a cat.

5p- Syndrome is a chromosomal deletion disorder resulting in a wide spectrum of intellectual and developmental abilities. Each year in the United States, approximately 50 to 60 children are born with 5p- Syndrome, also known as Cri du Chat Syndrome. These individuals will likely need a lifetime of support Cri du chat syndrome (CdCS) is a complex disorder involving the loss of the distal portion of the short arm of chromosome 5. TERT is located in the deleted region, and loss of one copy of TERT has been suggested as a cause or contributing factor of this disease

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Cri-du-chat syndrome is very rare, so it's unlikely to have more than one child with the condition. Last medically reviewed on May 4, 2017 Medically reviewed by Karen Gill, M.D. — Written by. 묘성 증후군(猫聲症候群, 프랑스어: Cri du chat syndrome) 또는 고양이 울음 증후군(영어: Cat's cry syndrome) 또는 5번 염색체 결실 증후군(chromosome 5p deletion syndrome, 5p minus syndrome), 또는 르죈 증후군(Lejeune's syndrome)은 5번 염색체의 일부가 결실되어 일어나는 드문 유전병이다 Sindrom mačjeg plača, izvorno Cri du chat sindrom, je rijetki genetički poremećaj, uzrokovan hromosomskom delecijom na hromosomu 5. Naziv je po francuskom terminu mačji plač ili mijau pozivu mačke, koji se odnosi na karakteristični mačji plač pogođene djece. Prvi ga je opisao francuski citogenetičar Jérôme Lejeune, 1963. Učestalost pogođenih procijenjena je ne 1/50.000.

Syndróm mačacieho plaču (iné názvy: syndróm cri du chat/syndróm Cri du chat [vyslov: kridüša], cri-du-chat syndróm, cat-cry syndróm [vyslov: kätkráj], syndróm mačacieho kriku, syndróm mačacieho mňaukania, Lejeunov syndróm, 5p- syndróm [čítaj:päť pé mínus], delécia krátkeho ramena chromozómu 5, CDC (syndróm), CCS) je zriedkavá geneticky podmienená choroba, ktorú. A Lejeune-szindrómának is nevezett Cri du chat szindrómát (vagy a magyarul még mindig gyakran használt kifejezéssel, de nem túl szerencsés módon elnevezett macskanyávogásos betegséget) 1963-ban ismerte fel Jerome Lejeune.A szindrómáért az 5. kromoszóma rövid karján található törés a felelős. Nevét a szindrómával járó gégefejlődési rendellenességből adódó. 942897. Syndrom cri du chat (syndrom kočičího křiku/kočičího mňoukání, monosomie 5p, Lejeuneův syndrom) je jedním ze syndromů způsobených strukturní chromozomální aberací. Syndrom dostal název podle charakteristických zvukových projevů postižených novorozenců, jejichž křik a pláč připomínají mňoukání kočky

Cri du Chat syndrome, also known as cat's cry syndrome, is caused by part of a missing chromosome and affects around one in 50,000 births. Brave Hallie born with rare 'cat's cry syndrome' His cousin, Ben Ford, who also lives in Litherland, is one of only two people in Merseyside with the rare Cri Du Chat syndrome This chromosome abnormality is most commonly associated with the myelodysplastic syndrome. It should not be confused with partial trisomy 5q, though both conditions have been observed in the same family. This should not be confused with the germ line cri du chat (5p deletion) syndrome which is a deletion of the short arm of the 5th chromosome Cri du chat (též syndrom kočičího pláče/mňoukání/křiku či Lejeunův syndrom, zapisován 46, XX, del(5p)) je vzácná vrozená geneticky podmíněná choroba, kterou v roce 1963 objevil a popsal francouzský lékař a genetik Jérôme Lejeune.Vyskytuje se velmi vzácně (asi jeden případ na 20-50 tisíc živých porodů)

Congenital adrenal hyperplasia (CAH) Congenital Central Hypoventilation Syndrome. Congenital Diaphragmatic Hernia (CDH) Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins. Costello syndrome. Craniopagus parasiticus. Cri du chat syndrome cri du chat syndrome: Definition Cri du chat syndrome occurs when a piece of chromosomal material is missing from a particular region on chromosome 5. The disorder is also called cat cry syndrome or chromosome deletion 5p syndrome. Individuals with this syndrome have unusual facial features, poor muscle tone (hypotonia), small head size. Cri-Du-Chat Syndrome Introduction. Cri-du-chat is an autosomal syndrome that is caused by a large or small deletion from a portion of the short arm of chromosome. This syndrome is also known as the 5p deletion syndrome where the P describes the short hand chromosome and Lejeune's syndrome The syndrome of 5p- better known as Cat's meow Syndrome is a rare disease identified by the geneticist Jerome Leujene in 1963. This syndrome occurs by deletion and lack of a fragment of chromosome 5. Small with this syndrome are born with low weight and with a very sharp cry. Therefore, the discoverer defined it as Cri du Chat Cri-du-chat (cat's cry) syndrome, also known as 5p- syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, distinctive facial features.

Cri du chat syndrome is a rare genetic disorder caused by a genetic mutation where a portion of chromosome 5 is deleted, or missing.. The name is a french term that refers to the characteristic high-pitched cry of the affected babies, which sounds like the cry of a cat or le cri du chat. Alright, our DNA is packaged up into 46 chromosomes, which contains the genes that are pretty much. Cri-du-Chat Syndrome. Cri-du-chat syndrome occurs when a child inherits a defective chromosome 5 from one parent (Figure 9.3. 16 n). This condition is rare - it is present in only 1 in 20,000 to 1 in 50,000 births but it does account for 1% of cases of profound intellectual disability How to say Cri du chat syndrome in English? Pronunciation of Cri du chat syndrome with 2 audio pronunciations, 1 meaning, 4 translations, 1 sentence and more for Cri du chat syndrome

Cri du chat syndrome — Wikipedia Republished // WIKI

Claire Jones with her daughter Hallie, who has Cri du Chat syndrome, also known as cat's cry syndromeMATTHEW HORWOOD Brave Hallie born with rare 'cat's cry syndrome' The money will go towards supporting Cri Du Chat sufferers and their families by providing them with the financial means to go on holiday with the medical support they need Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition usually have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development,so this means the. Synonyms for Cri du chat syndrome in Free Thesaurus. Antonyms for Cri du chat syndrome. 7 synonyms for syndrome: condition, complaint, illness, symptoms, disorder, ailment, affliction. What are synonyms for Cri du chat syndrome Infants with this condition. The syndrome is called cri du chat French for cry of the cat because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of abnormalities, especially affecting the head and face

Cri-Du-Chat (Cat’s Cry) Syndrome: Symptoms, Treatment & More

These are the sources and citations used to research Cri Du Chat Syndrome. This bibliography was generated on Cite This For Me on Wednesday, March 11, 201 Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome 5. The cause of this rare chromosomal deletion is unknown

El síndrome del maullido (en francés cri du chat), también llamado síndrome de Lejeune, es una enfermedad congénita infrecuente caracterizada por un llanto que se asemeja al maullido de un gato, dimorfismo facial característico, microcefalia y discapacidad intelectual. [1] El síndrome resulta de una alteración cromosómica provocada por una deleción parcial o total del brazo corto del. Das Katzenschrei-Syndrom oder Cri-du-chat-Syndrom (kurz: CDC-Syndrom oder CCS) ist erstmals 1963 von dem französischen Genetiker und Kinderarzt Jérôme Lejeune unter wissenschaftlichen Gesichtspunkten beschrieben worden. Er benannte es nach den katzenähnlichen Schreien (französisch cri du chat = Katzenschrei) der betroffenen Kinder im frühen Kindesalter 412k members in the wikipedia community. The most interesting pages on Wikipedia High Quality Content by WIKIPEDIA articles! Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune's syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children. It was first described by Jerome Lejeune in 1963 What is Cri Du Chat Syndrome? Cri-Du Chat, French for cry of the cat is a rare genetic disorder that occurs when there is a total or short deletion in the short arm of Chromosome 5. This portion of the chromosome is responsible for intellectual disability while the region of 5p15.3 is associated with speech delays and the high-pitched cat cry

Cri du chat syndrome

Cri-du-chat syndrome is a condition in which a piece of a short arm of chromosome 5 is missing. It is one of the most common syndromes caused by a chromosomal deletion. The affected neonates have a typical, high-pitched cry resembling the cry of the cat, often caused by maldeveloped larynx Cri-Du-Chat (Cat's Cry) Syndrome: Symptoms, the severity of the symptoms is determined by the size and location of the deletion on chromosome 5, also known as 5p- (5p minus) syndrome, This deletion occurs very early in the development of an embryo and cri du chat syndrome is usually not inherited in families Klinefelter syndrome (KS), also known as 47,XXY is a syndrome where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Often, symptoms are subtle and subjects do not realize they are affected. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor motor coordination, less body hair.

Th Cri Du chat mutation is the rare genetic condition in which the deletion of the 5p chromosome occurs. The cause of this rare mutation is unknown Cri du chat syndrome is a rare genetic disorder due to a missing part (deletion) of chromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children. The condition affects an estimated 1 in 50,000 live births, strikes all ethnicities, and is more common in females by a 4:3 ratio Τι είναι το σύνδρομο cri-du-chat; Το σύνδρομο cri-du-chat είναι μία γενετική πάθηση. Ονομάζεται επίσης «κλάμα της γάτας» ή σύνδρομο 5Ρ-. Είναι μία έλλειψη στο μικρό βραχίονα του χρωμοσώματος 5. Είναι. Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5.[1] Its name is a French term referring to the characteristic cat-like cry of affected children.[2] It was first described by Jérôme Lejeune in 1963.[3] The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.[4

ahsmediacenter / Characteristics of Cri du Chat Syndrome 3

Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune's syndrome, is a rare genetic disorder due to a missing part of chromosome 5.Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children.It was first described by Jérôme Lejeune in 1963. [1]. Cri du chat History. The syndrome was first described in 1963 by Jerome Lejeune, a French geneticist and pediatrician. Cri du chat Epidemiology. It is estimated to affect one in every 20,000-50,000 newborns [3]. The disease is reported in people of all ethnic backgrounds. The frequency is greater in girls

The baby was born at term with cri-du-chat syndrome. The child is severely physically and mentally handicapped, and will require constant medical and attendant care for life. Wrongful birth claim: child has a chromosomal disorder Also known as 5p-minus Syndrome or Lejeune's Syndrome, Cri Du Chat is a rare genetic disorder in which a variable part of chromosome 5 is missing or deleted. The disorder was first described by Dr. Jerome Lejeune in 1963, who named it Cri Du Chat, or cry of the cat, based on the characteristic, cat-like cry of affected children

Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic). Cri du chat syndrome (French for Cry or call of the cat referring to the specific cry of the child), also called deletion 5p syndrome, 5p minus or Le Jeune's syndrome, is a rare genetic disorder due to a missing portion of chromosome 5.It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 20,000 to 50,000 live births Synonyms for cri-du-chat syndrome in Free Thesaurus. Antonyms for cri-du-chat syndrome. 7 synonyms for syndrome: condition, complaint, illness, symptoms, disorder, ailment, affliction. What are synonyms for cri-du-chat syndrome İşarələr və simptomlar. Sindrom, adını qırtlaq və sinir sistemindəki problemlər səbəbiylə bir bala balasının miyavına bənzəyən təsirlənmiş körpələrin xarakterik fəryadından alır. Körpələrin təxminən üçdə biri 2 yaşına qədər ağlamağı dayandırır. Pişik çığırtısı sindromu digər simptomlarına aşağıdakılar aid edilə bilər

Hello, I'm the Cri du Chat syndrome which in French means cry of the cat, or I'm also known as 5p- (five p minus) syndrome, I also have other names that people call me but I just name two for now. As you might know there are 23 pairs of chromosomes in human DNA and I'm caused by a deletion of chromosome 5 In 1963 he identified Cri du Chat syndrome, caused by a missing segment in the short arm of chromosome 5, and in 1966 he described 18q-Syndrome, which results from loss of the distal portion of the long arm of chromosome 18. * Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. The presence of a single transverse palmar crease can be, but is not always.

About Cri du Chat Syndrome - Genome

Cri-du-Chat Syndrome is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings).Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity DefinitionCri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome's name is based on the infant's cry, which is high-pitched and sounds. Մլավոցի սինդրոմ, (անգլ.՝ cri du chat syndrome, ֆր.՝ maladie du cri du chat), Լեժենի սինդրոմ, հազվադեպ հանդիպող գենետիկական շեղում, ի հայտ է գալիս հինգերորդ քրոմոսոմի Դելեցիայի դեպքում ։ Մլավոցի սինդրոմի կլինիկական նկարագիրը կախված է ոչ.

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Cri Du Chat syndrome is a genetic disease that is the result of a piece of chromosome 5 missing. This disease gets its name from the cat like cry that the infant makes. Cri Du Chat is a rare condition but it is more common is girls than in boys. (en.wikipedia.org, Cri du chat Cri-du-chat syndrome is a chromosomal disorder characterized by a deletion of the short arm of chromosome 5 encompassing the mid-portion of the terminal band 5p15. In younger patients, the characteristic cry similar to the mewing of a cat is the key diagnostic feature of the syndrome Cri du chat.

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Cri du Chat Syndrome. GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version Үлгі:Infobox disease Мысықша мияулау синдромы (ағылш. cri du chat syndrome, фр. maladie du cri du chat; сномен қатар Лежён синдромы — 5 хромосоманың қысқа иінінің долециясымен байланысты өте сирек кездесетін генетикалық ауру Cri Du Chat Syndrome Awareness Shirt / Hoodie / Sweatshirt / Tank Top / Cri Du Chat Warrior Tshirt / Cri Du Chat Support Gift / Fighter Tee Bardally 5 out of 5 stars (1,783) $ 23.97 FREE shipping Add to Favorites More colors Cri du Chat, Rare is Beautiful, Baby short sleeve one piece, Rare Diagnosis, 5P- shirt, CDCS, Cri du Chat Proud.