短肋骨多指症候群
WordNet
- without possessing something at the time it is contractually sold; "he made his fortune by selling short just before the crash"
- the location on a baseball field where the shortstop is stationed
- low in stature; not tall; "he was short and stocky"; "short in stature"; "a short smokestack"; "a little man" (同)little
- lacking foresight or scope; "a short view of the problem"; "shortsighted policies"; "shortsighted critics derided the plan"; "myopic thinking" (同)shortsighted, unforesightful, myopic
- at a disadvantage; "I was caught short" (同)unawares
- (primarily spatial sense) having little length or lacking in length; "short skirts"; "short hair"; "the board was a foot short"; "a short toss"
- at some point or distance before a goal is reached; "he fell short of our expectations"
- clean across; "the cars axle snapped short"
- not holding securities or commodities that one sells in expectation of a fall in prices; "a short sale"; "short in cotton"
- of speech sounds or syllables of relatively short duration; "the English vowel sounds in `pat, `pet, `pit, `pot, putt are short"
- primarily temporal sense; indicating or being or seeming to be limited in duration; "a short life"; "a short flight"; "a short holiday"; "a short story"; "only a few short months"
- so as to interrupt; "She took him up short before he could continue"
- tending to crumble or break into flakes due to a large amount of shortening; "shortbread is a short crumbly cookie"; "a short flaky pie crust"
- form vertical ribs by knitting; "A ribbed sweater"
- a projecting molding on the underside of a vault or ceiling; may be ornamental or structural
- support resembling the rib of an animal
- any of the 12 pairs of curved arches of bone extending from the spine to or toward the sternum in humans (and similar bones in most vertebrates) (同)costa
- a riblike supporting or strengthening part of an animal or plant
- a teasing remark
- cut of meat including one or more ribs
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- birth defect characterized by the presence of more than the normal number of fingers or toes (同)hyperdactyly
- of or relating to a person (or other vertebrate) having more than the normal number of digits (同)polydactylous
PrepTutorEJDIC
- (長さ・時間・距離などが)『短い』,近い・(人が)『背が低い』・(数量・期間などが)不足の』,乏しい;目標(標準)に達しない・(文などが)『簡潔な』,手短な・『そっけない』,ぞんぞいな,無愛想な・(ケーキなどが)かりかりする,さくさくする・(母音・音節が)短い;(詩の行の母音が)強勢のない・急に,突然・短いもの;欠けているもの・短篇映画(short movie, short subject) ・=short circuit・《複数形で》不足,欠損 / …‘を'短絡させる,ショートさせる / 短絡する,ショートする
- 『肋骨』(ろっこつ),あばら骨 / (骨付きの)あばら肉 / 肋骨状の物;(船の)肋骨,肋材(ろくざい);(丸天井の)萩減(ろく)(建物・橋の)横ばり;(かさなどの) 骨 / 葉脈(vein) / (編物・織物の)うね / …‘に'肋骨(肋材)をつける / 〈編物〉‘に'うね模様をつける / 《話》…‘を'いじめる,からかう
- (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）』「2015/11/06 23:39:11」(JST)
[Wiki en表示]
"Short rib" redirects here. For other uses, see Short ribs.
| Short rib – polydactyly syndrome |
| Classification and external resources |
| Specialty |
medical genetics |
| ICD-10 |
Q77.2 |
| ICD-9-CM |
756.5 |
| OMIM |
263530 263520 263510 269860 |
| DiseasesDB |
32791 32793
32792
32795 |
| MeSH |
C05.116.099.708.857 |
Short rib – polydactyly syndrome is a family of four closely related dysplasias:
- I - "Saldino-Noonan type"
- II - "Majewski type"
- III - "Verma-Naumoff type" (associated with DYNC2H1)[1]
- IV - "Beemer-Langer type"
References
- ^ Merrill AE, Merriman B, Farrington-Rock C, et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. doi:10.1016/j.ajhg.2009.03.015. PMC 2667993. PMID 19361615.
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Osteochondrodysplasia (Q77–Q78, 756.4–756.5)
|
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Osteodysplasia//
osteodystrophy |
| Diaphysis |
- Camurati–Engelmann disease
|
|
| Metaphysis |
- Metaphyseal dysplasia
- Jansen's metaphyseal chondrodysplasia
- Schmid metaphyseal chondrodysplasia
|
|
| Epiphysis |
- Spondyloepiphyseal dysplasia congenita
- Multiple epiphyseal dysplasia
- Otospondylomegaepiphyseal dysplasia
|
|
| Osteosclerosis |
- Raine syndrome
- Osteopoikilosis
- Osteopetrosis
|
|
| Other/ungrouped |
- FLNB
- Opsismodysplasia
- Polyostotic fibrous dysplasia
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|
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Chondrodysplasia/
chondrodystrophy
(including dwarfism) |
| Osteochondroma |
- osteochondromatosis
- Hereditary multiple exostoses
|
|
| Chondroma/enchondroma |
- enchondromatosis
- Ollier disease
- Maffucci syndrome
|
|
| Growth factor receptor |
| FGFR2: |
|
|
| FGFR3: |
- Achondroplasia
- Thanatophoric dysplasia
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|
|
| COL2A1 collagen disease |
- Achondrogenesis
- Hypochondrogenesis
|
|
| SLC26A2 sulfation defect |
- Achondrogenesis
- Autosomal recessive multiple epiphyseal dysplasia
- Atelosteogenesis, type II
- Diastrophic dysplasia
|
|
| Chondrodysplasia punctata |
- Rhizomelic chondrodysplasia punctata
- Conradi–Hünermann syndrome
|
|
| Other dwarfism |
- Fibrochondrogenesis
- Short rib – polydactyly syndrome
- Majewski's polydactyly syndrome
- Léri–Weill dyschondrosteosis
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Index of bones and cartilage
|
|
| Description |
- Anatomy
- bones
- skull
- face
- neurocranium
- compound structures
- foramina
- upper extremity
- torso
- pelvis
- lower extremity
- Physiology
- Development
- Cells
|
|
| Disease |
- Congenital
- Neoplasms and cancer
- Trauma
- Other
- Symptoms and signs
|
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| Treatment |
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Cytoskeletal defects
|
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| Microfilaments |
| Myofilament |
| Actin |
- Hypertrophic cardiomyopathy 11
- Dilated cardiomyopathy 1AA
- DFNA20
- Nemaline myopathy 3
|
|
| Myosin |
- Elejalde syndrome
- Hypertrophic cardiomyopathy 1, 8, 10
- Usher syndrome 1B
- Freeman–Sheldon syndrome
- DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
- May-Hegglin anomaly
|
|
| Troponin |
- Hypertrophic cardiomyopathy 7, 2
- Nemaline myopathy 4, 5
|
|
| Tropomyosin |
- Hypertrophic cardiomyopathy 3
- Nemaline myopathy 1
|
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| Titin |
- Hypertrophic cardiomyopathy 9
|
|
|
| Other |
- Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
- Filamin
- FG syndrome 2
- Boomerang dysplasia
- Larsen syndrome
- Terminal osseous dysplasia with pigmentary defects
|
|
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| IF |
| 1/2 |
- Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
- Striate palmoplantar keratoderma 3
- Epidermolytic hyperkeratosis
- IHCM
- KRT2E (Ichthyosis bullosa of Siemens)
- KRT3 (Meesmann juvenile epithelial corneal dystrophy)
- KRT4 (White sponge nevus)
- KRT5 (Epidermolysis bullosa simplex)
- KRT8 (Familial cirrhosis)
- KRT10 (Epidermolytic hyperkeratosis)
- KRT12 (Meesmann juvenile epithelial corneal dystrophy)
- KRT13 (White sponge nevus)
- KRT14 (Epidermolysis bullosa simplex)
- KRT17 (Steatocystoma multiplex)
- KRT18 (Familial cirrhosis)
- KRT81/KRT83/KRT86 (Monilethrix)
- Naegeli–Franceschetti–Jadassohn syndrome
- Reticular pigmented anomaly of the flexures
|
|
| 3 |
- Desmin: Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy 1I
- Peripherin: Amyotrophic lateral sclerosis
|
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| 4 |
- Neurofilament: Parkinson's disease
- Charcot–Marie–Tooth disease 1F, 2E
- Amyotrophic lateral sclerosis
|
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| 5 |
- Laminopathy: LMNA
- Mandibuloacral dysplasia
- Dunnigan Familial partial lipodystrophy
- Emery-Dreifuss muscular dystrophy 2
- Limb-girdle muscular dystrophy 1B
- Charcot–Marie–Tooth disease 2B1
- LMNB
- Barraquer–Simons syndrome
- LEMD3
- Buschke–Ollendorff syndrome
- Osteopoikilosis
- LBR
- Pelger-Huet anomaly
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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|
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| Microtubules |
| Kinesin |
- Charcot–Marie–Tooth disease 2A
- Hereditary spastic paraplegia 10
|
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| Dynein |
- Primary ciliary dyskinesia
- Short rib-polydactyly syndrome 3
- Asphyxiating thoracic dysplasia 3
|
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| Other |
- Tauopathy
- Cavernous venous malformation
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|
|
| Membrane |
- Spectrin: Spinocerebellar ataxia 5
- Hereditary spherocytosis 2, 3
- Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
- Hereditary spherocytosis 1
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| Catenin |
- APC
- Gardner's syndrome
- Familial adenomatous polyposis
- plakoglobin (Naxos syndrome)
- GAN (Giant axonal neuropathy)
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| Other |
- desmoplakin: Striate palmoplantar keratoderma 2
- Carvajal syndrome
- Arrhythmogenic right ventricular dysplasia 8
- plectin: Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex of Ogna
- plakophilin: Skin fragility syndrome
- Arrhythmogenic right ventricular dysplasia 9
- centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
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See also: cytoskeletal proteins
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Index of cells
|
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| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
|
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UpToDate Contents
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English Journal
- Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
- Malicdan MC1, Vilboux T2, Stephen J3, Maglic D3, Mian L3, Konzman D3, Guo J3, Yildirimli D3, Bryant J3, Fischer R3, Zein WM4, Snow J5, Vemulapalli M6, Mullikin JC6, Toro C7, Solomon BD8, Niederhuber JE9; NISC Comparative Sequencing Program, Gahl WA10, Gunay-Aygun M11.
- Journal of medical genetics.J Med Genet.2015 Sep 18. pii: jmedgenet-2015-103316. doi: 10.1136/jmedgenet-2015-103316. [Epub ahead of print]
- BACKGROUND: In chicken, loss of TALPID3 results in non-functional cilia and short-rib polydactyly syndrome. This phenotype is caused by a frameshift mutation in the chicken ortholog of the human KIAA0586 gene, which encodes a novel coiled-coil domain protein essential for primary ciliogenesis, sugge
- PMID 26386044
- Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
- Li Y1, Garrod AS2, Madan-Khetarpal S3, Sreedher G3, McGuire M3,4, Yagi H1, Klena NT1, Gabriel GC1, Khalifa O, Zahid M1, Panigrahy A5, Weiner DJ2, Lo CW1.
- American journal of medical genetics. Part A.Am J Med Genet A.2015 Sep;167A(9):2188-96. doi: 10.1002/ajmg.a.37133. Epub 2015 Apr 25.
- Ciliopathies such as cranioectodermal dysplasia, Sensenbrenner syndrome, short-rib polydactyly, and Jeune syndrome are associated with respiratory complications arising from rib cage dysplasia. While such ciliopathies have been demonstrated to involve primary cilia defects, we show motile cilia dysf
- PMID 25914204
- Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
- Alby C1, Piquand K2, Huber C3, Megarbané A4, Ichkou A1, Legendre M5, Pelluard F6, Encha-Ravazi F1, Abi-Tayeh G7, Bessières B8, El Chehadeh-Djebbar S9, Laurent N9, Faivre L9, Sztriha L10, Zombor M10, Szabó H10, Failler M11, Garfa-Traore M12, Bole C13, Nitschké P14, Nizon M15, Elkhartoufi N1, Clerget-Darpoux F2, Munnich A1, Lyonnet S1, Vekemans M1, Saunier S11, Cormier-Daire V15, Attié-Bitach T1, Thomas S16.
- American journal of human genetics.Am J Hum Genet.2015 Aug 6;97(2):311-8. doi: 10.1016/j.ajhg.2015.06.003. Epub 2015 Jul 9.
- KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. H
- PMID 26166481
Japanese Journal
- Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography
- Yamada Takahiro,Nishimura Gen,Nishida Keiichiro,Sawai Hideaki,Omatsu Tokuhiko,Kimura Taichi,Nishihara Hiroshi,Shono Rina,Shimada Shigeki,Morikawa Mamoru,Mizushima Masato,Yamada Takashi,Cho Kazutoshi,Tanaka Shinya,Shirato Hiroki,Minakami Hisanori
- Journal of Obstetrics and Gynaecology Research 37(2), 151-155, 2011-02
- … We present a case of short-rib polydactyly syndrome (SRP) type 3 in which accurate prenatal diagnosis was feasible using both ultrasonography and 3D-CT. … However, the phenotypes overlap with those of nonlethal skeletal dysplasias, i.e., Ellis-van Creveld syndrome and Jeune syndrome. …
- NAID 120005311807
- Anisosplenia を伴なった short rib-polydactyly syndrome, Majewski type,の1例
- 秋本 尚孝,佐藤 幸男,李 俊益,岡本 直正
- 先天異常 : 日本先天異常学会会報 : official journal of Congeital Anomalies Research Association of Japan 24(3), 251-252, 1984-09-30
- NAID 110002754299
- Short rib-polydactyly Syndrome,Majewski type〔邦文〕 (先天異常<症例特集>) -- (四肢骨形成不全,小人症,合指(肢)症ならびに関節異常)
Related Links
- Short rib polydactyly syndrome (SRPS) type 2 (Majewski syndrome) is a rare inherited, autosomal recessive, lethal skeletal dysplasia characterized by horizontally located short ribs, pre- and postaxial polysyndactyly ...
- The portal for rare diseases and orphan drugs ... Summary Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). Prevalence as a group is unknown.
★リンクテーブル★
[★]
- 英
- short rib-polydactyly syndrome
- 関
- 致死性四肢短縮型低身長症
[★]
- (比較級shorter-最上級shortest)短い、不足した、乏しい、省略された
- 関
- abbreviated、brevis、brief、dearth、deficit、in short、insufficiency、insufficient、lack、paucity、poor、scant、scanty、scarce、scarcity、shortage、shortness
[★]
肋骨
[★]