Melnick-Needles syndrome

メルニック・ニードルズ症候群、Melnick-Needles症候群

関

dyschondroplasia、hyperostosis corticalis generalisata、multiple epiphyseal dysplasia、osteochondrodysplasia、Schwartz-Jampel syndrome、spondyloepiphyseal dysplasia

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

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/04/25 14:51:27」(JST)

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Melnick–Needles syndrome
Classification and external resources
OMIM	309350

Melnick–Needles syndrome (MNS), also known as Melnick–Needles osteodysplasty, is an extremely rare congenital disorder that affects primarily bone development. Patients with Melnick–Needles syndrome have typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull.

In males, the disorder is nearly always lethal in infancy. Lifespan of female patients might not be affected.

Melnick–Needles syndrome is associated with mutations in the FLNA gene and is inherited in an X-linked dominant manner. As with many genetic disorders, there is no known cure to MNS.

The disorder was first described by John C. Melnick and Carl F. Needles in 1966 in two multi-generational families.

References

See also

• Osteochondrodysplasia

UpToDate Contents

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English Journal

• Toward an understanding of the short bone phenotype associated with multiple osteochondromas.

• Jones KB, Datar M, Ravichandran S, Jin H, Jurrus E, Whitaker R, Capecchi MR.SourceSarcoma Services, Department of Orthopaedics and Center for Children's Cancer Research, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
• Journal of orthopaedic research : official publication of the Orthopaedic Research Society.J Orthop Res.2013 Apr;31(4):651-7. doi: 10.1002/jor.22280. Epub 2012 Nov 28.
• Individuals with multiple osteochondromas (MO) demonstrate shortened long bones. Ext1 or Ext2 haploinsufficiency cannot recapitulate the phenotype in mice. Loss of heterozygosity for Ext1 may induce shortening by steal of longitudinal growth into osteochondromas or by a general derangement of physea
• PMID 23192691

• Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing.

• Sui W, Ou M, Liang J, Ding M, Chen J, Liu W, Xiao R, Meng X, Wang L, Pan X, Zhu P, Xue W, Zhang Y, Lin H, Li F, Zhang J, Dai Y.SourceGuangxi Key laboratory of Metabolic Diseases Research, Central Laboratory of Guilin 181st Hospital, Guilin, 541002, China.
• Gene.Gene.2013 Mar 10;516(2):311-5. doi: 10.1016/j.gene.2012.12.072. Epub 2013 Jan 4.
• Osteopetrosis is a rare genetically heterogeneous disorder of bone metabolism characterized by increased skeleton density. In the past, standard methods for genetic diagnosis of osteopetrosis have primarily been performed by candidate gene screening and positional cloning. However, these methods are
• PMID 23296056

• Evaluation of the severity of malocclusions in children affected by osteogenesis imperfecta with the peer assessment rating and discrepancy indexes.

• Rizkallah J, Schwartz S, Rauch F, Glorieux F, Vu DD, Muller K, Retrouvey JM.SourceMontreal Children's Hospital-McGill University, Montreal, Quebec, Canada. jean.rizkallah@umontreal.ca
• American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics.Am J Orthod Dentofacial Orthop.2013 Mar;143(3):336-41. doi: 10.1016/j.ajodo.2012.10.016.
• INTRODUCTION: Osteogenesis imperfecta is a heritable disorder affecting bone and tooth development. Malocclusion is frequent in those affected by osteogenesis imperfecta, but this has not been studied in detail. The purpose of this study was to describe and quantify the severity of malocclusions in
• PMID 23452967

Japanese Journal

• 臨床室 Melnick-Needles症候群の1例

• 川澄 本明,鬼頭 浩史,吉橋 裕治 [他]
• 整形外科 60(10), 1089-1092, 2009-09
• NAID 40016800097

• Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report

• HAMEL CJ
• Am J Med Genet 56, 312-316, 1995
• NAID 30001973732

Related Links

• Melnick-Needles syndrome - Genetics Home Reference

Melnick-Needles syndrome is usually the most severe of the otopalatodigital spectrum disorders. People with this condition are usually of short stature, have an abnormal curvature of the spine (scoliosis), partial dislocation (subluxation) of ...

• Melnick-Needles syndrome - Office of Rare Diseases - NIH

A US Department of Health and Human Service project providing information on genetic and rare diseases. A comprehensive body of resources on Melnick- Needles syndrome.

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「シュワルツ・ヤンペル症候群」

　　[★]

英

Schwartz-Jampel syndrome

同

シュワルツ症候群 Schwartz syndrome、筋強直性軟骨ジストロフィー myotonic chondrodystrophy

関

骨軟骨形成異常、多発性骨端異形成症、脊椎骨端異形成症、軟骨形成不全症、Schwartz-Jampel症候群、メルニック・ニードルズ症候群、全身性皮質性骨化過剰症

dyschondroplasia、hyperostosis corticalis generalisata、Melnick-Needles syndrome、multiple epiphyseal dysplasia、osteochondrodysplasia、spondyloepiphyseal dysplasia

• 骨形成不全と筋強直を伴う遺伝性疾患

参考

• 1. Congenital blepharophimosis associated with a unique generalized myopathy.

• SCHWARTZ O, JAMPEL RS.
• Archives of ophthalmology.Arch Ophthalmol.1962 Jul;68:52-7.
• PMID 13909723

「メルニック・ニードルズ症候群」

　　[★]

英

Melnick-Needles syndrome

関

骨軟骨形成異常、多発性骨端異形成症、脊椎骨端異形成症、軟骨形成不全症、シュワルツ・ヤンペル症候群、Melnick-Needles症候群、全身性皮質性骨化過剰症

「Melnick-Needles症候群」

　　[★]

英

Melnick-Needles syndrome

関

メルニック・ニードルズ症候群

「syndrome」

　　[★]

• n.

• 症候群