Seckel syndrome

Seckel syndrome
Seckel syndrome
Other names	Harper's syndrome
Specialty	Medical genetics

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 restriction and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures,^[3] receding mandible and intellectual disability.

A mouse model has been developed.^[4] This mouse model is characterized by a severe deficiency of ATR protein.^[4] These mice suffer high levels of replicative stress and DNA damage. Adult Seckel mice display accelerated ageing.^[4] These findings are consistent with the DNA damage theory of aging.

Symptoms and signs[]

Symptoms include:

intellectual disability (more than half of the patients have an IQ below 50)
microcephaly
sometimes pancytopenia (low blood counts)
cryptorchidism
low birth weight
dislocations of pelvis and elbow
unusually large eyes
low ears
small chin

Genetics[]

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.

Types include:

Type	OMIM	Gene	Locus
SCKL1	210600	ATR	3q22-q24
SCKL2	606744	?	18p11-q11
SCKL3	608664	?	14q
SCKL4	613676	CENPJ	13q12

Diagnosis[]

Treatment[]

History[]

The syndrome was named after German-American physician ^[5] (1900–1960). The synonym Harper's syndrome was named after .^[6]^[7]

References[]

^ 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.
^ 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.
^ ^a ^b ^c 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.
^ "Seckel's syndrome".
^ 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.

External links[]

Seckel's syndrome at Who Named It?

[pmid17921644-1] 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.

[WynbrandtLudman2008-2] 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.

[PMID29894776-3] 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.

[pmid19620979-4] 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] Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.

[6] "Seckel's syndrome".

[pmid6022184-7] 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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Classification	D ICD-10: Q87.1 ICD-9-CM: 759.89 OMIM: 210600 DiseasesDB: 31625
External resources	Orphanet: 808

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Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
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v t Nucleus diseases
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Centromere	CENPJ Seckel syndrome 4
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see also nucleus