Seckel syndrome

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

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

History

The syndrome was named after German- American physician Helmut Paul George Seckel[5] (1900–1960). The synonym Harper's syndrome was named after Rita G. Harper.[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.
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?

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[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.

Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome
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 Snyder–Robinson syndrome Turner syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome

Nucleus diseases
Telomere	Revesz syndrome
Nucleolus	Treacher Collins syndrome Spinocerebellar ataxia 7 Cajal body: 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

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