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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

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/11/16 10:27:23」(JST)

wiki en

Duane-radial ray syndrome is a rare disorder that affects the eyes and causes abnormalities of bones in the arms and hands.

Presentation

The name of the condition refers to the two elements which most commonly present:

This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). Duane anomaly results from the improper development of certain nerves that control eye movement. This condition limits outward eye movement (toward the ear), and in some cases may limit inward eye movement (toward the nose). As the eye moves inward, the eye opening becomes narrower and the eyeball may pull back (retract) into its socket.

Bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a thumb that looks like a finger. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations.

People with the combination of Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include unusually shaped ears, hearing loss, heart and kidney defects, a distinctive facial appearance, an inward- and downward-turning foot (a clubfoot), and fused vertebrae.

Related conditions

The varied signs and symptoms of Duane-radial ray syndrome often overlap with features of other disorders.

For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations, and kidney defects. Both conditions can be caused by mutations in the same gene.^[1] Based on these similarities, researchers are investigating whether Duane-radial ray syndrome and acro-renal-ocular syndrome are separate disorders or part of a single syndrome with many possible signs and symptoms.

The features of Duane-radial ray syndrome also overlap with those of a condition called Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes.

Genetics

Mutations in the SALL4 gene cause Duane-radial ray syndrome. The SALL4 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they bind to specific regions of DNA and help control the activity of particular genes. Mutations in the SALL4 gene prevent one copy of the gene in each cell from making any protein. It remains unclear how a reduction in the amount of SALL4 protein leads to Duane anomaly, radial ray malformations, and the other features of Duane-radial ray syndrome and similar conditions. Duane-radial ray syndrome often is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

References

^ Kohlhase J, Schubert L, Liebers M, et al. (2003). "Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy". J. Med. Genet. 40 (7): 473–8. doi:10.1136/jmg.40.7.473. PMC 1735528. PMID 12843316.

External links

Duane-radial ray syndrome at NLM Genetics Home Reference

English Journal

Duane retraction syndrome in a patient with Duchenne muscular dystrophy.

Bosley TM1, Salih MA2, Alkhalidi H3, Oystreck DT4, El Khashab HY2, Kondkar AA1, Abu-Amero KK1,5.
Ophthalmic genetics.Ophthalmic Genet.2016 Feb 5:1-5. [Epub ahead of print]
PURPOSE: We describe the clinical features of a boy with bilateral Duane retraction syndrome (DRS), Duchenne muscular dystrophy (DMD), and other medical problems.METHODS: The child was followed-up for five years; his chart was reviewed, including the results of a muscle biopsy and genetic testing. M
PMID 26849454

Novel frameshift variant in gene SALL4 causing Okihiro syndrome.

Alves LU1, Perez AB2, Alonso LG2, Otto PA1, Mingroni-Netto RC3.
European journal of medical genetics.Eur J Med Genet.2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11.
Okihiro syndrome, Duane-radial ray syndrome or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations describing an extremely variable condition, characterized by several radial defects of the upper limbs associated with Duane anomaly. It is a rare autosomal dominant disorder determi
PMID 26791099

Duane Retraction Syndrome Associated with a Small X Chromosome Deletion.

Abu-Amero KK1, Kondkar AA1, Odan HA1, Khan AO2, Oystreck DT1, Bosley TM1.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques.Can J Neurol Sci.2016 Jan 25:1-3. [Epub ahead of print]
PMID 26891113

Japanese Journal

A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a Novel SALL4 mutation

TERHAL P
Am J Med Genet A 140, 222-226, 2006
NAID 30014518213

Okihiro syndrome is caused by SALL4 mutations

KOHLHASE J.
Hum. Mol. Genet. 11, 2979-2987, 2002
NAID 30018402149

Related Pictures

★リンクテーブル★

リンク元	「オキヒロ症候群」
関連記事	「syndrome」

「オキヒロ症候群」

Duane-radial ray syndrome
Classification and external resources
OMIM	607323
DiseasesDB	33688

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英: Okihiro syndrome
同: Okihiro症候群
関: デュアン症候群 Duane syndrome、デュアン眼球後退症候群 Duane retraction syndrome

上肢の形成異常や眼球運動制限を伴う遺伝性疾患

Okihiro syndrome refers to the association of forearm malformations with Duane syndrome of eye retraction.

参考

wiki en

http://en.wikipedia.org/wiki/Duane-radial_ray_syndrome

Okihiro syndrome is caused by SALL4 mutations.

Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W.
Hum Mol Genet. 2002 Nov 1;11(23):2979-87.
Okihiro syndrome refers to the association of forearm malformations with Duane syndrome of eye retraction. Based on the reported literature experience, clinical diagnosis of the syndrome can be elusive, owing to the variable presentation in families reported. Specifically, there is overlap of clinical features with other conditions, most notably Holt-Oram syndrome, a condition resulting from mutation of the TBX5 locus and Townes-Brocks syndrome, known to be caused by mutations in the SALL1 gene. Arising from our observation of several malformations in Okihiro syndrome patients which are also described in Townes-Brocks syndrome, we postulated that Okihiro syndrome might result from mutation of another member of the human SALL gene family. We have characterized the human SALL4 gene on chromosome 20q13.13-q13.2. Moreover, we have identified literature reports of forelimb malformations in patients with cytogenetically identifiable abnormalities of this region. We here present evidence in 5 of 8 affected families that mutation at this locus results in the Okihiro syndrome phenotype.
PMID 12393809

「syndrome」

　　[★]

n.

症候群

[pmid12843316-1] Kohlhase J, Schubert L, Liebers M, et al. (2003). "Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy". J. Med. Genet. 40 (7): 473–8. doi:10.1136/jmg.40.7.473. PMC 1735528. PMID 12843316.

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案内

案内

Okihiro syndrome