ゼッケル症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- small yellowish- to reddish-brown pear (同)seckel pear
PrepTutorEJDIC
- (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）』「2013/07/25 14:23:06」(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 an antimongoloid slant[citation needed], receding mandible and mental retardation.
A mouse model has been developed.[3]
Contents
- 1 Genetics
- 2 History
- 3 Symptoms
- 4 External links
- 5 See also
- 6 References
Genetics[edit]
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 |
History[edit]
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]
Symptoms[edit]
Symptoms include:
- mental retardation (more than half of the patients have an IQ below 50)
- microcephaly
- sometimes pancytopenia
- cryptorchidism
- low birth weight
- dislocations of pelvis and elbow
- unusually large eyes
- low ears
- small chin
External links[edit]
- Seckel's syndrome at Who Named It?
See also[edit]
References[edit]
- ^ 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.
|
Congenital abnormality · multiple abnormalities (Q87, 759.7)
|
|
| Craniofacial |
Acrocephalosyndactylia (Apert syndrome/Pfeiffer syndrome, Saethre–Chotzen syndrome, Carpenter syndrome, Sakati–Nyhan–Tisdale syndrome)
other: Möbius syndrome · Goldenhar syndrome · Cyclopia
|
|
| 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 (Sirenomelia) · 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 |
3 (Zimmerman–Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome)
|
|
|
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
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
|
Nucleus diseases
|
|
| Telomere |
Revesz syndrome
|
|
| Nucleolus |
Treacher–Collins syndrome · Spinocerebellar ataxia 7
Cajal body: Survival motor neuron spinal muscular atrophy
|
|
| Centromere |
CENPJ (Seckel syndrome 4)
|
|
| Other |
AAAS (Triple-A syndrome) · Laminopathy · SMC1A/SMC3 (Cornelia de Lange Syndrome) · SETBP1 (Schinzel–Giedion syndrome)
|
|
see also nucleus
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
UpToDate Contents
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English Journal
- Neuropathology of fetal stage Seckel syndrome: A case report providing a morphological correlate for the emerging molecular mechanisms.
- Fitzgerald B, O'Driscoll M, Chong K, Keating S, Shannon P.SourceDepartment of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Canada.
- Brain & development.Brain Dev.2011 Jun 11. [Epub ahead of print]
- Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly and mental retardation. Pathological descriptions of fetal stage Seckel syndrome are rare and pre-date the evolving understanding of the genetic and molecular mechanisms in
- PMID 21669506
- Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
- Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, Gripp KW, Moline J, Moran RT, Niyazov DM, Stevens CA, Zackai E, Lebel RR, Ashley DG, Kramer N, Lachman RS, Graham JM Jr.SourceMedical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California, USA.
- American journal of medical genetics. Part A.Am J Med Genet A.2011 Jun;155A(6):1336-51. doi: 10.1002/ajmg.a.34049. Epub 2011 May 5.
- Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals with 1q24q25 deletions, who show distinctive features of a clinically recogniza
- PMID 21548129
Japanese Journal
- Oral Findings in Seckel Syndrome : A Case Report
- KIM Yoo-Jun,JIN Dallae,HYUN Hong-Keun,JANG Ki-Taeg
- 障害者歯科 31(3), 526, 2010-09-30
- NAID 10026706471
Related Links
- 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) is a congenital nanosomic disorder. Inheritance is autosomal ...
★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.
[★]