Seckel syndrome

Seckel syndrome
Classification and external resources
Specialty medical genetics
ICD-10 Q87.1
ICD-9-CM 759.89
OMIM 210600
DiseasesDB 31625
MeSH C537533, C537534, C563881
Orphanet 808

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 an extremely rare 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 , receding mandible and intellectual disability.

A mouse model has been developed.[3]


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 include:


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


  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.
  2. 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.
  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 2902278Freely accessible. PMID 19620979.
  4. Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.
  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.
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