Seckel syndrome

Seckel syndrome
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, receding mandible and mental retardation.

A mouse model has been developed.[3]

Contents

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

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]

Symptoms

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

See also

References

  1. ^ 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. http://www.jisppd.com/article.asp?issn=0970-4388;year=2007;volume=25;issue=5;spage=8;epage=9;aulast=Harsha. 
  2. ^ James Wynbrandt; Mark D. Ludman (February 2008). The encyclopedia of genetic disorders and birth defects. Infobase Publishing. pp. 344–. ISBN 9780816063963. http://books.google.com/books?id=kXaMjwItP0oC&pg=PA344. Retrieved 7 January 2011. 
  3. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2902278. 
  4. ^ Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.
  5. ^ http://www.whonamedit.com/synd.cfm/869.html
  6. ^ 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. 
v · d · eCongenital abnormality · multiple abnormalities (Q87, 759.7)
Craniofacial
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
Overgrowth
Laurence-Moon-Bardet-Biedl
Bardet–Biedl syndrome · Laurence-Moon syndrome
Combined/other,
known locus
v · d · eDeficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
Marinesco–Sjögren syndrome · Aarskog–Scott syndrome · Juvenile primary lateral sclerosis · X-Linked mental retardation 1
G protein
MAP kinase
Other kinase/phosphatase
RPS6KA3 (Coffin-Lowry syndrome) · CHEK2 (Li-Fraumeni syndrome 2) · IKBKG (Incontinentia pigmenti) · STK11 (Peutz–Jeghers syndrome) · DMPK (Myotonic dystrophy 1) · ATR (Seckel syndrome 1) · GRK1 (Oguchi disease 2) · WNK4/WNK1 (Pseudohypoaldosteronism 2)
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
Other
NF2 (Neurofibromatosis type II) · NOTCH3 (CADASIL) · PRKAR1A (Carney complex) · PRKAG2 (Wolff–Parkinson–White syndrome) · PRKCSH (PRKCSH Polycystic liver disease) · XIAP (XIAP2)
see also intracellular signaling peptides and proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
v · Telomere
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 (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk



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Look at other dictionaries:

  • Seckel syndrome — A birth defect syndrome with severe short stature and, characteristically, low birth weight, very small head (microcephaly), receding forehead, large eyes, low ears, prominent beaklike protrusion of the nose, and smallish chin. Defects of bones… …   Medical dictionary

  • Virchow-Seckel syndrome — (also known as bird headed dwarfism, Harper s syndrome or Seckel dwarfism) is a syndrome of unknown etiology, characterized by intrauterine growth retardation and postnatal dwarfism with a small head, narrow bird like face with a beak like nose,… …   Wikipedia

  • Virchow-Seckel syndrome — Vir·chow Seck·el syndrome (fērґko sekґəl) [R.L.K. Virchow; Helmut Paul George Seckel, American physician, 1900–1960] Seckel syndrome; see under syndrome …   Medical dictionary

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