WordNet

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

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(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

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/03/19 04:45:40」(JST)

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Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim.^[1] Both the vertical and horizontal palpebral fissures (eyelid opening) are shortened. Vignes (1889) probably first described this entity, a dysplasia of the eyelids.

Presentation

In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus.

BPES

Blepharophimosis, ptosis, and epicanthus inversus syndrome, either with premature ovarian failure (BPES type I) or without (BPES type II), is caused by mutations in the FOXL2 gene.^[2]

References

^ Photo of blepharophimosis patient
^ OMIM article on Blepharophimosis

External links

Description of surgical steps in blepharophimosis

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UpToDate Contents

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1. 原発性早期卵巣障害（早期卵巣機能不全）の病因と原因 pathogenesis and causes of spontaneous primary ovarian insufficiency premature ovarian failure
2. 自発性早期卵巣障害（早期卵巣機能不全）の臨床症状と診断 clinical manifestations and diagnosis of spontaneous primary ovarian insufficiency premature ovarian failure
3. 微細欠失症候群（1番～11番染色体） microdeletion syndromes chromosomes 1 to 11
4. 微細重複症候群 microduplication syndromes
5. 眼瞼下垂症の概要 overview of ptosis

English Journal

Cover Image, Volume 173A, Number 6, June 2017.

Takenouchi T1,2, Miwa T3, Sakamoto Y4, Sakaguchi Y1,2, Uehara T1, Takahashi T2, Kosaki K1.
American journal of medical genetics. Part A.Am J Med Genet A.2017 Jun;173(6):i. doi: 10.1002/ajmg.a.38301.
PMID 28544734

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

Takenouchi T1,2, Miwa T3, Sakamoto Y4, Sakaguchi Y1,2, Uehara T1, Takahashi T2, Kosaki K1.
American journal of medical genetics. Part A.Am J Med Genet A.2017 Jun;173(6):1631-1634. doi: 10.1002/ajmg.a.38126. Epub 2017 Apr 13.
PMID 28407407

Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome.

Mandal SK1, Mandal A2, Fleming JC3, Goecks T4, Meador A5, Fowler BT6.
Journal of clinical and diagnostic research : JCDR.J Clin Diagn Res.2017 Mar;11(3):NC05-NC08. doi: 10.7860/JCDR/2017/25651.9496. Epub 2017 Mar 1.
PMID 28511421

Japanese Journal

悪性上大静脈症候群に伴う顔面浮腫による眼裂狭小に五苓散倍量投与が有効であった1例

Palliative Care Research 10(4), 557-561, 2015
NAID 130005117260

Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins

Journal of Reproduction and Development 60(1), 14-20, 2014
NAID 130003381856

Blepharophimosis-ptosis-epicanthus inversus syndrome

Pediatrics international : official journal of the Japan Pediatric Society 53(3), 390-392, 2011-06-01
NAID 10029558557

「眼瞼縮小症候群」

Blepharophimosis
Classification and external resources
Specialty	medical genetics
ICD-10	H02.5, Q10.3
ICD-9-CM	374.46, 743.62
OMIM	110100
DiseasesDB	33297
MeSH	D016569
	[edit on Wikidata]