WordNet

abnormal development (of organs or cells) or an abnormal structure resulting from such growth

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/27 09:26:01」(JST)

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Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.

Presentation

People with spondyloepiphyseal dysplasia are short-statured from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. This type of dwarfism is characterized by a normal spinal column length relative to the femur bone. Adult height ranges from 0.9 meters (35 inches) to just over 1.4 meters (55 inches). Curvature of the spine (kyphoscoliosis and lordosis) progresses during childhood and can cause problems with breathing. Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and an inward- and downward-turning foot (called clubfoot). Decreased joint mobility and arthritis often develop early in life. Medical texts often state a mild and variable change to facial features, including cheekbones close to the nose appearing flattened, although this appears to be unfounded. Some infants are born with an opening in the roof of the mouth, which is called a cleft palate. Severe nearsightedness (high myopia) is sometimes present, as are other eye problems that can affect vision such as detached retinas. About one-quarter of people with this condition have mild to moderate hearing loss.

Causes

X-ray of the spine in a patient with spondyloepimetaphyseal dysplasia

Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other connective tissues. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.

Spondyloepiphyseal dysplasia congenita is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.

Notable cases

Actors Warwick Davis's and Mark Povinelli's dwarfism has been attributed to spondyloepiphyseal dysplasia congenita. The condition of late actor Michael Dunn has been attributed to spondyloepiphyseal dysplasia, type unspecified. Mexican actress and comedian Selene Luna may have it as well. Jennifer Arnold and Bill Klein from the TV series The Little Couple both have spondyloepiphyseal dysplasia as well.

References

Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6

External links

GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda
OMIM entries on X-Linked Spondyloepiphyseal Dysplasia Tarda
Spondyloepiphyseal dysplasia congenita at NLM Genetics Home Reference
-1643773875 at GPnotebook
01031 at CHORUS
Spondyloepiphyseal_dysplasia_congenita at the Duke University Health System's Orthopedics program
Little People of America Includes list of International support groups

UpToDate Contents

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1. 先天性股関節脱臼：臨床的特徴および診断 developmental dysplasia of the hip clinical features and diagnosis
2. 症候群をきたす免疫不全症 syndromic immunodeficiencies
3. 先天性股関節脱臼：治療および転帰 developmental dysplasia of the hip treatment and outcome
4. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
5. 成人におけるてんかんの外科的治療 surgical treatment of epilepsy in adults

English Journal

Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.

Li H1, Ma L, Wang B, Cui Y, Xiao T.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society.Eur Spine J.2015 May 13. [Epub ahead of print]
PURPOSE: To identify potential disease-causing mutation in the COL2A1 gene in a Chinese family with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC) and to analyze the phenotype-genotype correlation.METHODS: Complete physical and radiographic examinations of four affected individuals
PMID 25967556

A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with schimke immunoosseous dysplasia.

Carroll C1, Hunley TE, Guo Y, Cortez D.
American journal of medical genetics. Part A.Am J Med Genet A.2015 May 5. doi: 10.1002/ajmg.a.37146. [Epub ahead of print]
Schimke Immunoosseous Dysplasia (SIOD) is a rare, autosomal recessive disorder of childhood characterized by spondyloepiphyseal dysplasia, focal segmental glomerulosclerosis and renal failure, T-cell immunodeficiency, and cancer in certain instances. Approximately half of patients with SIOD are repo
PMID 25943327

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.

Tham E1, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G.
Clinical genetics.Clin Genet.2015 May;87(5):496-8. doi: 10.1111/cge.12466. Epub 2014 Sep 8.
PMID 25060605

Japanese Journal

進行性股関節亜脱臼を認めた Schimke immuno-osseous dysplasia の1例

中村直行,奥住成晴,町田治郎,宮川祐介,大河内誠,草山善洋,大久保淳,気賀沢寿人,鹿間芳明,五味淳,西村玄
日本小児整形外科学会雑誌 = Journal of Japanese Paediatric Orthopaedic Association 19(1), 34-39, 2010-02-15
NAID 10029267428

両側大腿骨外顆離断性骨軟骨炎に円板状半月板障害を合併した脊椎骨端骨異形成症の1例

目貫邦隆,高原康宏,加藤久佳,内田圭治,内田陽一郎,檀浦生日
中部日本整形外科災害外科学会雑誌. 中部日本整形外科災害外科学会抄録 52(2), 349-350, 2009-03-01
NAID 10026232813

先天性脊椎骨端異形成症の内反股に対する Orthofix 創外固定器を用いた両大腿骨外反骨切り術の一例

和田晃房,藤井敏男,高村和幸
日本創外固定・骨延長学会雑誌 = The journal of the Japanese Association of External Fixation and Limb Lengthening 18, 150, 2007-03-20
NAID 10025767714

Related Pictures

★リンクテーブル★

リンク元	「モルキオ症候群」「シュワルツ・ヤンペル症候群」「Melnick-Needles syndrome」「脊椎骨端異形成症」

「モルキオ症候群」

Spondyloepiphyseal dysplasia congenita
	A 61⁄2-year-old male with spondyloepiphyseal dysplasia congenita. Short stature, disproportionately short trunk, and kyphoscoliosis.
Classification and external resources
ICD-10	Q77.7
ICD-9	756.9
OMIM	183900
DiseasesDB	29410
eMedicine	orthoped/630

　　[★]

英: Morquio's syndrome, Morquio syndrome
同: ムコ多糖症IV型 mucopolysaccharidosis IV mucopolysaccharidosis type IV MPS IV、骨軟骨発育不全症 spondyloepiphyseal dysplasia、骨軟骨異形成症 chondro dysplasia、骨軟骨形成異常症 chondro-osteodystrophy
関: ムコ多糖症

概念

2種類の酵素欠損のいずれかが原因となるケラタン硫酸の蓄積

遺伝形式

常染色体性劣性遺伝

病因

SPE.177

酵素欠損によるケラタン硫酸の蓄積

1. N-acetyl galactosamine 6-sulfatase欠損
2. β-galactosidase欠損

徴候

知能：正常
低身長：脊柱変形による
軽度の角膜混濁、肝腫大もありうる。

参考

1. MUCOPOLYSACCHARIDOSIS TYPE IVA - OMIM

http://omim.org/entry/253000

2. MUCOPOLYSACCHARIDOSIS TYPE IVB - OMIM

http://omim.org/entry/253010

3. MORQUIO SYNDROME C - OMIM

http://omim.org/entry/252300

「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

「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

「脊椎骨端異形成症」

　　[★]

英: spondyloepiphyseal dysplasia
関: 骨軟骨形成異常、多発性骨端異形成症、軟骨形成不全症、シュワルツ・ヤンペル症候群、メルニック・ニードルズ症候群、全身性皮質性骨化過剰症

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案内

案内

spondyloepiphyseal dysplasia