|Other names: Harper's syndrome|
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 an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. It is characterized by intrauterine growth restriction 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. This mouse model is characterized by a severe deficiency of ATR protein. These mice suffer high levels of replicative stress and DNA damage. Adult Seckel mice display accelerated ageing. These findings are consistent with the DNA damage theory of aging.
Symptoms and signs
- Intellectual disability (more than half of the patients have an IQ below 50)
- Sometimes pancytopenia (low blood counts)
- Low birth weight
- Dislocations of pelvis and elbow
- Unusually large eyes
- Low ears
- Small chin
- Cleft palate (unusual)
It is believed 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.
The DDX with microcephalic osteodysplastic dwarfism type II is done via radiographic survey 
Management of intellectual disability of affected individual will be needed. Hematological abnormalities will need medical management also
The syndrome was named after German- American physician Helmut Paul George Seckel (1900–1960). The synonym Harper's syndrome was named after Rita G. Harper.
- ↑ 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. Archived from the original on 2021-03-05. Retrieved 2021-01-28.
- ↑ 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. Archived from the original on 2 January 2022. Retrieved 7 January 2011.
- ↑ Jung M, Rai A, Wang L, Puttmann K, Kukreja K, Koh CJ (2018). "Nephrolithiasis in a 17-Year-Old Male With Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature". Urology. 120: 241–243. doi:10.1016/j.urology.2018.05.023. PMID 29894776.
- ↑ 4.0 4.1 4.2 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.
- ↑ 5.0 5.1 RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Seckel syndrome". www.orpha.net. Archived from the original on 20 January 2021. Retrieved 12 August 2021.
- ↑ Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.
- ↑ "Seckel's syndrome". Archived from the original on 2021-01-28. Retrieved 2021-01-28.
- ↑ 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.