- 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) is a congenital nanosomic disorder.
Inheritance is autosomal recessive.
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.
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.
Type OMIM Gene Locus SCKL1 210600 ATR 3q22-q24 SCKL2 606744 ? 18p11-q11 SCKL3 608664 ? 14q SCKL4 613676 CENPJ 13q12
- mental retardation (more than half of the patients have an IQ below 50)
- sometimes pancytopenia
- low birth weight
- dislocations of pelvis and elbow
- unusually large eyes
- low ears
- small chin
- Seckel's syndrome at Who Named It?
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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 Short stature Limbs Overgrowth Laurence-Moon-Bardet-BiedlBardet–Biedl syndrome · Laurence-Moon syndrome Combined/other,
Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulatorsGTPase-activating protein G proteinARF: SAR1B (Chylomicron retention disease) ARL13B (Joubert syndrome 8) · ARL6 (Bardet–Biedl syndrome 3) MAP kinase Other kinase/phosphatase Signal transducing adaptor proteins Other Nucleolus CentromereCENPJ (Seckel syndrome 4) Other
Wikimedia Foundation. 2010.