ゼッケル症候群
WordNet
- to go or travel towards; "where is she heading"; "We were headed for the mountains"
- the length or height based on the size of a human or animal head; "he is two heads taller than his little sister"; "his horse won by a head"
- the pressure exerted by a fluid; "a head of steam"
- the tip of an abscess (where the pus accumulates)
- (nautical) a toilet on board a boat or ship
- (usually plural) the obverse side of a coin that usually bears the representation of a persons head; "call heads or tails!"
- a projection out from one end; "the head of the nail", "a pinhead is the head of a pin"
- a single domestic animal; "200 head of cattle"
- the striking part of a tool; "the head of the hammer"
- the upper part of the human body or the front part of the body in animals; contains the face and brains; "he stuck his head out the window" (同)caput
- a person who is in charge; "the head of the whole operation" (同)chief, top_dog
- (grammar) the word in a grammatical constituent that plays the same grammatical role as the whole constituent (同)head word
- a rounded compact mass; "the head of a comet"
- a user of (usually soft) drugs; "the office was full of secret heads"
- an individual person; "tickets are $5 per head"
- that part of a skeletal muscle that is away from the bone that it moves
- the foam or froth that accumulates at the top when you pour an effervescent liquid into a container; "the beer had a large head of foam"
- the front of a military formation or procession; "the head of the column advanced boldly"; "they were at the head of the attack"
- the rounded end of a bone that fits into a rounded cavity in another bone to form a joint; "the head of the humerus"
- the top of something; "the head of the stairs"; "the head of the page"; "the head of the list"
- be the first or leading member of (a group) and excel; "This student heads the class" (同)head up
- be in charge of; "Who is heading this project?" (同)lead
- be in the front of or on top of; "The list was headed by the name of the president"
- form a head or come or grow to a head; "The wheat headed early this year"
- remove the head of; "head the fish"
- take its rise; "These rivers head from a mountain range in the Himalayas"
- of leafy vegetables; having formed into a head; "headed cabbages"
- having a head of a specified kind or anything that serves as a head; often used in combination; "headed bolts"; "three-headed Cerberus"; "a cool-headed fighter pilot"
- having a heading or caption; "a headed column"; "headed notepaper"
- having a heading or course in a certain direction; "westward headed wagons"
- watch and study birds in their natural habitat (同)birdwatch
- warm-blooded egg-laying vertebrates characterized by feathers and forelimbs modified as wings
- the flesh of a bird or fowl (wild or domestic) used as food (同)fowl
- a genetic abnormality resulting in short stature (同)nanism
PrepTutorEJDIC
- (顔を含めた)『頭』,頭部,首;(髪の生えている部分の)頭 / 『頭脳』,頭の働き,知力,才能;理性 / 『長』,指導者,支配者 / (ある物の)頭,上部,先端,先頭 / (川・泉の)源,水源 / (人・動物の)頭数,一人,1頭 / 『首席』,首位 / 《複数形で》(頭像のある)貨幣の表 / 項目,表題(新聞の)見出し / 《米俗》マリファナ常用者 / 長の,指導者の / …‘の'先頭に立つ,‘を'率いる;…‘の'長である / (…の方へ)…‘を'向ける《+『名』+『for』(『toward』)+『名』》 / (サッカーで)〈ボール〉‘を'頭で受ける,ヘディングする / (…に向かって)進む《+for(toward)+名》・「give a head」で「オーラルセックスをする・相手の性器をなめる」
- 頭[部]のある,見出しのある / (キャベツなどが)結球した / 《複合語を作って》「…の頭を持つ」「頭が…の」の意を表す
- 『鳥』 / 〈話〉《修飾語を伴なって(目立った特徴をもった)やつ,人 / 〓shuttlecock / 《英俗》女 / 《俗》《the bird》(分満を表す)し‐っし‐っという野次《形容詞的に》『bird feathers』{名}鳥の羽『bird life』{名}〈U〉鳥の生活
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/02 23:27:04」(JST)
[Wiki en表示]
| Seckel syndrome |
| Classification and external resources |
| ICD-10 |
Q87.1 |
| OMIM |
210600 |
| DiseasesDB |
31625 |
The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Seckel[1]) is a congenital nanosomic disorder.
Inheritance is autosomal recessive.[2]
It is characterized by intrauterine growth retardation and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures[citation needed], receding mandible and intellectual disability.
A mouse model has been developed.[3]
Contents
- 1 Genetics
- 2 Symptoms
- 3 History
- 4 See also
- 5 References
- 6 External links
Genetics
It is supposed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3 related protein (ATR) which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism.
Types include:
| Type |
OMIM |
Gene |
Locus |
| SCKL1 |
210600 |
ATR |
3q22-q24 |
| SCKL2 |
606744 |
? |
18p11-q11 |
| SCKL3 |
608664 |
? |
14q |
| SCKL4 |
613676 |
CENPJ |
13q12 |
Symptoms
Symptoms include:
- intellectual disability (more than half of the patients have an IQ below 50)
- microcephaly
- sometimes pancytopenia (low blood counts)
- cryptorchidism
- low birth weight
- dislocations of pelvis and elbow
- unusually large eyes
- low ears
- small chin
History
The syndrome was named after Helmut Paul George Seckel[4] (American physician, 1900–1960). Harper's syndrome is named after Rita G. Harper.[5][6]
See also
References
- ^ Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D (2007). "Bird-headed dwarf of Seckel". J Indian Soc Pedod Prev Dent. 25 Suppl: S8–9. PMID 17921644.
- ^ James Wynbrandt; Mark D. Ludman (February 2008). The encyclopedia of genetic disorders and birth defects. Infobase Publishing. pp. 344–. ISBN 978-0-8160-6396-3. Retrieved 7 January 2011.
- ^ Murga M, Bunting S, Montaña MF, et al. (August 2009). "A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging". Nat. Genet. 41 (8): 891–8. doi:10.1038/ng.420. PMC 2902278. PMID 19620979.
- ^ Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.
- ^ http://www.whonamedit.com/synd.cfm/869.html
- ^ Harper RG, Orti E, Baker RK (May 1967). "Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies". J. Pediatr. 70 (5): 799–804. doi:10.1016/S0022-3476(67)80334-2. PMID 6022184.
External links
- Seckel's syndrome at Who Named It?
|
Congenital abnormality syndromes (Q87, 759.7)
|
|
| Craniofacial |
- Acrocephalosyndactylia
- Apert syndrome/Pfeiffer syndrome
- Saethre–Chotzen syndrome
- Carpenter syndrome
- Sakati–Nyhan–Tisdale syndrome
|
|
| other: |
- Möbius syndrome
- Goldenhar syndrome
- Cyclopia
- Baller–Gerold syndrome
|
|
|
| Short stature |
- 1q21.1 deletion syndrome
- Aarskog–Scott syndrome
- Cockayne syndrome
- Cornelia de Lange Syndrome
- Dubowitz syndrome
- Noonan syndrome
- Robinow syndrome
- Silver–Russell syndrome
- Seckel syndrome
- Smith–Lemli–Opitz syndrome
- Turner syndrome
|
|
| Limbs |
- Adducted thumb syndrome
- Holt–Oram syndrome
- Klippel–Trénaunay–Weber syndrome
- Nail–patella syndrome
- Rubinstein–Taybi syndrome
|
|
| Gastrulation/mesoderm: |
- Caudal regression syndrome
- ectromelia
- VACTERL association
|
|
|
| Overgrowth |
- Beckwith–Wiedemann syndrome
- Sotos syndrome
- Weaver syndrome
- Perlman syndrome
|
|
| Laurence–Moon–Bardet–Biedl |
- Bardet–Biedl syndrome
- Laurence–Moon syndrome
|
|
Combined/other,
known locus |
- 2 (Feingold syndrome)
- 3 (Zimmermann–Laband syndrome)
- 4/13 (Fraser syndrome)
- 8 (Branchio-oto-renal syndrome, CHARGE syndrome)
- 12 (Keutel syndrome, Timothy syndrome)
- 15 (Marfan syndrome)
- 19 (Donohue syndrome)
- Multiple
|
|
|
Index of developmental medicine
|
|
| Description |
- Embryology
- Cell lines
- Stem cells
- endoderm
- mesoderm
- ectoderm
|
|
| Disease |
- Due to toxins
- Syndromes
- Chromosomal
- Neonate
- Twins
|
|
|
|
Deficiencies of intracellular signaling peptides and proteins
|
|
| GTP-binding protein regulators |
| GTPase-activating protein |
- Neurofibromatosis type I
- Watson syndrome
- Tuberous sclerosis
|
|
| Guanine nucleotide exchange factor |
- Marinesco–Sjögren syndrome
- Aarskog–Scott syndrome
- Juvenile primary lateral sclerosis
- X-Linked mental retardation 1
|
|
|
| G protein |
| Heterotrimeic |
- cAMP/GNAS1: Pseudopseudohypoparathyroidism
- Progressive osseous heteroplasia
- Pseudohypoparathyroidism
- Albright's hereditary osteodystrophy
- McCune–Albright syndrome
- CGL 2
|
|
| Monomeric |
- RAS: HRAS
- KRAS
- Noonan syndrome 3
- KRAS Cardiofaciocutaneous syndrome
- RAB: RAB7
- Charcot–Marie–Tooth disease
- RAB23
- RAB27
- Griscelli syndrome type 2
- RHO: RAC2
- Neutrophil immunodeficiency syndrome
- ARF: SAR1B
- Chylomicron retention disease
- ARL13B
- ARL6
|
|
|
| MAP kinase |
- Cardiofaciocutaneous syndrome
|
|
| Other kinase/phosphatase |
| Tyrosine kinase |
- BTK
- X-linked agammaglobulinemia
- ZAP70
|
|
| Serine/threonine kinase |
- RPS6KA3
- CHEK2
- IKBKG
- STK11
- DMPK
- ATR
- GRK1
- WNK4/WNK1
- Pseudohypoaldosteronism 2
|
|
| Tyrosine phosphatase |
- PTEN
- Bannayan–Riley–Ruvalcaba syndrome
- Lhermitte–Duclos disease
- Cowden syndrome
- Proteus-like syndrome
- MTM1
- X-linked myotubular myopathy
- PTPN11
- Noonan syndrome 1
- LEOPARD syndrome
- Metachondromatosis
|
|
|
| Signal transducing adaptor proteins |
- EDARADD
- EDARADD Hypohidrotic ectodermal dysplasia
- SH3BP2
- LDB3
|
|
| Other |
- NF2
- Neurofibromatosis type II
- NOTCH3
- PRKAR1A
- PRKAG2
- Wolff–Parkinson–White syndrome
- PRKCSH
- PRKCSH Polycystic liver disease
- XIAP
|
|
|
See also intracellular signaling peptides and proteins
|
Index of cells
|
|
| 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
|
|
|
|
Nucleus diseases
|
|
| Telomere |
|
|
| Nucleolus |
- Treacher Collins syndrome
- Spinocerebellar ataxia 7
- Cajal body: Spinal muscular atrophy
|
|
| Centromere |
|
|
| Other |
- AAAS
- Laminopathy
- SMC1A/SMC3
- Cornelia de Lange Syndrome
- SETBP1
- Schinzel–Giedion syndrome
|
|
|
see also nucleus
|
Index of cells
|
|
| 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
|
|
|
UpToDate Contents
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English Journal
- Small molecule inhibition of p38 MAP kinase extends the replicative life span of human ATR-Seckel syndrome fibroblasts.
- Tivey HS1, Rokicki MJ, Barnacle JR, Rogers MJ, Bagley MC, Kipling D, Davis T.Author information 1Institute of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, Wales, UK.AbstractAtaxia-telangiectasia and rad3 (ATR)-related Seckel syndrome is associated with growth retardation and premature aging features. ATR-Seckel fibroblasts have a reduced replicative capacity in vitro and an aged morphology that is associated with activation of stress-associated p38 mitogen-activated protein kinase and phosphorylated HSP27. These phenotypes are prevented using p38 inhibitors, with replicative capacity restored to the normal range. However, this stressed phenotype is retained in telomerase-immortalized ATR-Seckel fibroblasts, indicating that it is independent of telomere erosion. As with normal fibroblasts, senescence in ATR-Seckel is bypassed by p53 abrogation. Young ATR-Seckel fibroblasts show elevated levels of p21(WAF1), p16(INK4A), phosphorylated actin-binding protein cofilin, and phosphorylated caveolin-1, with small molecule drug inhibition of p38 reducing p16(INK4A) and caveolin-1 phosphorylation. In conclusion, ATR-Seckel fibroblasts undergo accelerated aging via stress-induced premature senescence and p38 activation that may underlie certain clinical features of Seckel syndrome, and our data suggest a novel target for pharmacological intervention in this human syndrome.
- The journals of gerontology. Series A, Biological sciences and medical sciences.J Gerontol A Biol Sci Med Sci.2013 Sep;68(9):1001-9. doi: 10.1093/gerona/gls336. Epub 2013 Feb 11.
- Ataxia-telangiectasia and rad3 (ATR)-related Seckel syndrome is associated with growth retardation and premature aging features. ATR-Seckel fibroblasts have a reduced replicative capacity in vitro and an aged morphology that is associated with activation of stress-associated p38 mitogen-activated pr
- PMID 23401567
- ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.
- Valdés-Sánchez L1, De la Cerda B, Diaz-Corrales FJ, Massalini S, Chakarova CF, Wright AF, Bhattacharya SS.Author information 1Department of Cell Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, Seville 41092, Spain.AbstractAtaxia-telangiectasia and Rad3 (ATR), a sensor of DNA damage, is associated with the regulation and control of cell division. ATR deficit is known to cause Seckel syndrome, characterized by severe proportionate short stature and microcephaly. We used a mouse model for Seckel disease to study the effect of ATR deficit on retinal development and function and we have found a new role for ATR, which is critical for the postnatal development of the photoreceptor (PR) layer in mouse retina. The structural and functional characterization of the ATR(+/s) mouse retinas displayed a specific, severe and early degeneration of rod and cone cells resembling some characteristics of human retinal degenerations. A new localization of ATR in the cilia of PRs and the fact that mutant mice have shorter cilia suggests that the PR degeneration here described results from a ciliary defect.
- Human molecular genetics.Hum Mol Genet.2013 Apr 15;22(8):1507-15. doi: 10.1093/hmg/dds563. Epub 2013 Jan 7.
- Ataxia-telangiectasia and Rad3 (ATR), a sensor of DNA damage, is associated with the regulation and control of cell division. ATR deficit is known to cause Seckel syndrome, characterized by severe proportionate short stature and microcephaly. We used a mouse model for Seckel disease to study the eff
- PMID 23297361
- Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome.
- Aktas Z1, Yuksel N, Kula S, Akman A, Hasanreisoglu B.Author information 1Departments of Ophthalmology, Gazi University School of Medicine, Ankara, Turkey. drzeynep2000@yahoo.comAbstractPURPOSE: The purpose of the study was to report a patient with Seckel syndrome associated with high intraocular pressures despite intensive antiglaucoma treatment.
- Journal of glaucoma.J Glaucoma.2013 Apr-May;22(4):e3-4. doi: 10.1097/IJG.0b013e318237cadf.
- PURPOSE: The purpose of the study was to report a patient with Seckel syndrome associated with high intraocular pressures despite intensive antiglaucoma treatment.METHODS: Case report.RESULTS: High intraocular pressure readings in both eyes measured with the Goldman applanation tonometer, bilateral
- PMID 22027933
Japanese Journal
- 口蓋裂を伴ったBird-headed dwarfismの1例
- 山下 眞里子,杉原 一正,大久保 章朗,河田 政昭,若松 常信,山下 佐英
- 日本口腔外科学会雑誌 33(1), 163-170, 1987
- … Bird-headed dwarfism, a rare form of proportionate dwarfism, was recognized as an entity by Seckel in 1960.The condition comprises (1) dwarfism, (2) low birth weight, (3) microcephaly, (4) mental retardation, and (5) beak-like appearance of the mid-face.<BR>Recently, we experienced a case of Bird-headed dwarfism.She was 9 years 5 months old. …
- NAID 130001357677
- Bird-Headed Dwarfism(Seckel′s syndrome)〔邦文〕 (第50回中部日本整形外科災害外科学会)
Related Links
- Bird-headed dwarfism symptoms, causes, diagnosis, and treatment information for Bird-headed dwarfism (Seckel syndrome 1) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and ...
- Other Names for this Disease Bird-headed dwarfism with features of premature senility Premature senility, premature graying and loss of scalp hair and ... These Web pages are updated as the Genetic and Rare Diseases Information ...
- Low birth weight dwarfism with mental retardation, large eyes, a beaklike nose, narrow face, receding mandible, and dental anomalies are the specific features of `bird-headed dwarf of Seckel'. The following case report presents details ...
★リンクテーブル★
[★]
- 英
- Seckel syndrome
- 同
- Seckel症候群
- 関
- bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, Bird-headed dwarf of Seckel
- 遺伝形式：常染色体劣性遺伝
- 重度の低身長症、重度の小頭、彎曲した高い鼻が主徴
- 小頭症、子宮内発育遅延、小人症、鳥様顔貌(後退した前額・下顎、高い鼻、大きい眼球)、精神遅滞を呈する。
参考
- Bird-headed dwarfs; studies in developmental anthropology including human proportions.
[★]
- 英
- bird-headed dwarfism
- 関
- ゼッケル症候群
[★]
[★]
- 関
- Aves、avian