Cayler syndrome

ケーラー症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/04 01:56:48」(JST)

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Asymmetric crying facies
Classification and external resources
ICD-10	Q87.0
OMIM	125520
DiseasesDB	32618

Asymmetric crying facies (ACF), also called Cayler cardiofacial syndrome, partial unilateral facial paresis and hypoplasia of depressor angula oris muscle, is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles that control the movements of the lower lip. This unilateral facial weakness is first noticed when the infant cries or smiles, affecting only one corner of the mouth and occurs on the left side in nearly 80% of cases. It is associated with other birth defects in more than 50% of cases.

When the hypoplasia of the depressor anguli oris muscle is associated with congenital cardiac defects, the term 'Cayler cardiofacial syndrome' is used.

Cayler syndrome is part of 22q11.2 deletion syndrome.

It was characterized by Cayler in 1969.

References

• Sapin SO, Miller AA, Bass HN (2005). "Neonatal asymmetric crying facies: a new look at an old problem". Clin Pediatr (Phila) 44 (2): 109–19. doi:10.1177/000992280504400202. PMID 15735828. 
• Lahat E, Heyman E, Barkay A, Goldberg M (2000). "Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature". J Child Neurol 15 (12): 808–10. doi:10.1177/088307380001501208. PMID 11198496. 
• Rioja-Mazza D, Lieber E, Kamath V, Kalpatthi R (2005). "Asymmetric crying facies: A possible marker for congenital malformations". J Matern Fetal Neonatal Med 18 (4): 275–7. doi:10.1080/14767050500246482. PMID 16318980. 

UpToDate Contents

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• 1. 新生児の評価 assessment of the newborn infant
• 2. DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis

English Journal

• Cayler cardiofacial syndrome with situs inversus totalis.

• Rai B1, Mallick D, Thapa R, Biswas B.Author information 1Department of Pediatrics, Midland Regional Hospital, Mullingar, Ireland, drbirendrarai@gmail.com.AbstractCayler cardiofacial syndrome is characterised by congenital unilateral hypoplasia of the depressor anguli oris muscle (DAOM) in association with congenital cardiac defects. Hypoplasia of this muscle causes inability to move one corner of the mouth downward and outward while crying or grimacing, giving rise to an 'asymmetric crying face' appearance. A variety of congenital cardiac defects have been described. Occasionally, other organ system anomalies may be additionally present. We present an instance of right-sided hypoplasia of the DAOM in a male newborn, which additionally had dextrocardia as a component of situs inversus totalis. To our knowledge, situs inversus totalis has not been previously documented as a part of this syndrome. Additionally, we reiterate that paediatricians need to be aware that this minor facial anomaly may be associated with severe internal organ system anomalies, with cardiac being most common.
• European journal of pediatrics.Eur J Pediatr.2014 Jan 3. [Epub ahead of print]
• Cayler cardiofacial syndrome is characterised by congenital unilateral hypoplasia of the depressor anguli oris muscle (DAOM) in association with congenital cardiac defects. Hypoplasia of this muscle causes inability to move one corner of the mouth downward and outward while crying or grimacing, givi
• PMID 24384797

• [Clinical features and follow-up study of neonatal asymmetric crying facies].

• Lu CQ1, Zhuang XL, Chu C, Jiang H, Wang JM.Author information 1Gynecology and Obstetrics Hospital, Fudan University, Shanghai, China.AbstractOBJECTIVE: To evaluate the clinical characteristics and short-term outcomes of neonatal asymmetric crying facies (ACF), in order to improve recognition of the disease.
• Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.Zhongguo Dang Dai Er Ke Za Zhi.2012 Dec;14(12):913-7.
• OBJECTIVE: To evaluate the clinical characteristics and short-term outcomes of neonatal asymmetric crying facies (ACF), in order to improve recognition of the disease.METHODS: The clinical data of 11 infants with ACF between January 2010 and February 2012 were retrospectively studied. Physical and n
• PMID 23234777

• Asymmetric crying facies: a possible marker for congenital malformations.

• Rioja-Mazza D1, Lieber E, Kamath V, Kalpatthi R.Author information 1Department of Pediatrics, Lincoln Hospital Center, Bronx, NY, USA.AbstractAsymmetric crying facies (ACF) is caused by agenesis or hypoplasia of the depressor anguli oris muscle on one side of the mouth. Though it is an isolated finding in most cases, ACF can be associated with other congenital malformations especially of the cardiovascular system. We report a case of ACF that was subsequently diagnosed as Cayler syndrome based on associated tetralogy of Fallot (TOF) and deletion of chromosome 22q11.
• The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.J Matern Fetal Neonatal Med.2005 Oct;18(4):275-7.
• Asymmetric crying facies (ACF) is caused by agenesis or hypoplasia of the depressor anguli oris muscle on one side of the mouth. Though it is an isolated finding in most cases, ACF can be associated with other congenital malformations especially of the cardiovascular system. We report a case of ACF
• PMID 16318980

Japanese Journal

• A case of the cardiofacial syndrome (Cayler's syndrome)

• Casken Huseyin,Kurtoglu Selim,Ustunbas Hasan Basri [他],UZUM KAZIM,NARIN NAZMI
• Acta paediatrica Japonica 38(3), 256-259, 1996-06-01
• NAID 10010500405

• Cayler cardiofacial syndrome and del 22q11 : part of the CATCH 22 phenotype

• GIANNOTTI A
• Am J ed Genet 53, 303-304, 1994
• NAID 30001973503

• 症例 大動脈弓遮断症を合併するCardiofacial syndromeの1剖検例

• 松岡 裕二,佐藤 雄一,山元 一裕,先成 英一,田原 正英,古賀 保範,早川 国男
• 心臓 11(10), 1121-1126, 1979
• … 先天性片側下口唇麻輝と先天性心疾患の合併は,新しい症候群として1969年 CaylerらによりCardiofacial syndrome として提唱された. …
• NAID 130004410574

Related Links

• Cayler Syndrome | Cigna - Cigna, a Global Health Insurance ...

Cayler syndrome, also known as "asymmetric crying facies with cardiac defects," is an extremely rare disorder characterized by congenital heart defects and the underdevelopment or absence of one of the muscles that control the ...

• Cayler Syndrome | Heart News Links - Linking the Global ...

Cayler syndrome, also known as asymmetric crying facies with cardiac defects, is an extremely rare congenital disorder characterized with the underdevelopment or absence of one of the muscles that control the movements of the ...

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