Cri-du-chat syndrome
עודכן לאחרונה 25 Oct 2022
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
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 characterised by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.
תיאור
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 characterised by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.
Inheritance patterns
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Other names
5p deletion syndrome
5p- syndrome
Cat cry syndrome
Chromosome 5p- syndrome
Monosomy 5p
Related patient information and medicines
Patient information leaflet
תסמונת קרי דו שא
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. ה 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 abnorma....
Patient information leaflet
תסמונת לכידת פרקורדיאל
Although precordial catch syndrome is a harmless cause of chest pain, there are many other causes of chest pain, some of which are serious and need urgent medical attention. What is precordial catch syndrome. תסמונת לכידת פרקורדיאל (PCS) is condition which causes a sharp stabbing pain in the chest. These typically get worse with breathing in,.
Patient information leaflet
מוות בעריסה
However, you can reduce the risk of cot death by the measures detailed below. The most important are to lay your baby on his or her back to sleep (not on their front or side) and to create a smoke-free zone for your baby. What is cot death. מוות בעריסה is more properly known as sudden infant death syndrome (SIDS). It is the term used to describe the.
Patient information leaflet
תסמונת אלרגיה אוראלית
Oral allergy syndrome causes symptoms around the mouth that are triggered by certain foods. It is associated with other conditions caused by plant allergies, such as hay fever and allergy to birch pollen. It's also called pollen-food syndrom... What is oral allergy syndrome. Oral allergy syndrome (OAS) is an allergic condition which causes itching.
Patient information leaflet
תסמונת קושינג
תסמונת קושינג מטופל? caused by too high a level of glucocorticoid in the body. This can be caused by taking steroid medication long-term (the common cause) or by the body making too much cortisol (the main glucocorticoid made by the body). Symptoms usually develop gradually and so the diagnosis (other than that caused by steroid medication) may.
Patient information leaflet
תסמונת הקאות מחזורית
Cyclical vomiting syndrome is a condition which occurs mainly in children but can also affect adults. It is more common in people who have migraines. Children have severe episodes of feeling sick (nausea) and being sick (vomiting), sometimes with other symptoms. In between these episodes the person is completely well. There are various treatments.
קריאה נוספת והפניות
- Cri-du-chat syndrome; MedlinePlus, National Library of Medicine.
- Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. 2006 Sep 5;1:33. doi: 10.1186/1750-1172-1-33.
- Hills C, Moller JH, Finkelstein M, Lohr J, Schimmenti L. Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium. Pediatrics. 2006 May;117(5):e924-7. doi: 10.1542/peds.2005-1012. Epub 2006 Apr 3.
- Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, Provera S, Pierluigi M, Bricarelli FD. The natural history of Cri du Chat Syndrome. A report from the Italian Register. Eur J Med Genet. 2006 Sep-Oct;49(5):363-83. doi: 10.1016/j.ejmg.2005.12.004. Epub 2006 Jan 13.
- Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet. 2001 Mar;38(3):151-8. doi: 10.1136/jmg.38.3.151.
- Rodriguez-Caballero A, Torres-Lagares D, Rodriguez-Perez A, Serrera-Figallo MA, Hernandez-Guisado JM, Machuca-Portillo G. Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal. 2010 May 1;15(3):e473-8. doi: 10.4317/medoral.15.e473.
- Sigafoos J, O'Reilly MF, Lancioni GE. Cri-du-chat. Dev Neurorehabil. 2009 Jun;12(3):119-21. doi: 10.1080/17518420902975720. No abstract available.
- Wu Q, Niebuhr E, Yang H, Hansen L. Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. Eur J Hum Genet. 2005 Apr;13(4):475-85. doi: 10.1038/sj.ejhg.5201345.
- Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet. 2005 Feb;76(2):312-26. doi: 10.1086/427762. Epub 2005 Jan 4.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.