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(Top) 1 Symptoms and signs 2 Genetics 3 Diagnosis 4 Treatment 5 History 6 See also 7 References 8 External links

Seckel syndrome

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Seckel syndrome
Other names	Harper's syndrome

Boy with Seckel syndrome (left)
Specialty	Medical genetics
Causes	defects of genes on chromosome 3 and 18.

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 have high levels of replicative stress and DNA damage. Adult Seckel mice display accelerated aging.^[4] These findings are consistent with the DNA damage theory of aging.

Symptoms and signs[edit]

Symptoms include:

intellectual disability (more than half of the patients have an IQ below 50)
microcephaly
sometimes pancytopenia (low blood counts)
cryptorchidism in males
low birth weight
dislocations of pelvis and elbow
unusually large eyes
blindness or visual impairment
large, low-set ears
small chin due to receded lower jaw

Genetics[edit]

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[edit]

This section is empty. You can help by adding to it. (December 2017)

Treatment[edit]

This section is empty. You can help by adding to it. (December 2017)

History[edit]

The syndrome was named after German–American physician Helmut Paul George Seckel^[5] (1900–1960). The synonym Harper's syndrome was named after pediatrician Rita G. Harper.^[6]^[7]

References[edit]

^ 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. S2CID 48353132.

^ ^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[edit]

Seckel's syndromeatWho Named It?

v t e Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactyly Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Moebius syndrome Pierre Robin sequence
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 syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Bannayan–Riley–Ruvalcaba syndrome Beckwith–Wiedemann syndrome Benign symmetric lipomatosis Klippel–Trénaunay syndrome Neurofibromatosis type I Perlman syndrome Proteus syndrome Sotos syndrome Tatton-Brown–Rahman syndrome Weaver syndrome
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

Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators

GTPase-activating protein

Guanine nucleotide
exchange factor

G protein

Heterotrimeic

Monomeric

RAS: HRAS
- Costello syndrome
KRAS
- Noonan syndrome 3
- KRAS Cardiofaciocutaneous syndrome

RAB: RAB7
- Charcot–Marie–Tooth disease
RAB23
- Carpenter syndrome
RAB27
- Griscelli syndrome type 2

RHO: RAC2
- Neutrophil immunodeficiency syndrome

ARF: SAR1B
- Chylomicron retention disease
ARL13B
- Joubert syndrome 8
ARL6
- Bardet–Biedl syndrome 3

MAP kinase

Cardiofaciocutaneous syndrome

Other kinase/phosphatase

Tyrosine kinase

BTK
- X-linked agammaglobulinemia
ZAP70
- ZAP70 deficiency

Serine/threonine
kinase

RPS6KA3
- Coffin-Lowry syndrome
CHEK2
- Li–Fraumeni syndrome 2
IKBKG
- Incontinentia pigmenti
STK11
- Peutz–Jeghers syndrome
DMPK
- Myotonic dystrophy 1
ATR
- Seckel syndrome 1
GRK1
- Oguchi disease 2
WNK4/WNK1
- Pseudohypoaldosteronism 2

Tyrosine
phosphatase

Signal transducing adaptor proteins

EDARADD
- EDARADD Hypohidrotic ectodermal dysplasia
SH3BP2
- Cherubism
LDB3
- Zaspopathy

Other

NF2
- Neurofibromatosis type II
Notch 3
- CADASIL
PRKAR1A
- Carney complex
PRKAG2
- Wolff–Parkinson–White syndrome
PRKCSH
- PRKCSH Polycystic liver disease
XIAP
- XIAP2

v t e 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

Retrieved from "https://en.wikipedia.org/w/index.php?title=Seckel_syndrome&oldid=1227944998" Categories: ●Congenital disorders ●Growth disorders ●Syndromes with microcephaly ●Syndromes affecting stature ●Syndromes with intellectual disability ●Rare syndromes Hidden categories: ●CS1: long volume value ●Articles with short description ●Short description is different from Wikidata ●Articles to be expanded from December 2017 ●All articles to be expanded ●Articles with empty sections from December 2017 ●All articles with empty sections ●Articles using small message boxes ●This page was last edited on 8 June 2024, at 16:55 (UTC). ●Text is available under the Creative Commons Attribution-ShareAlike License 4.0; additional terms may apply. By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc., a non-profit organization. ●Privacy policy ●About Wikipedia ●Disclaimers ●Contact Wikipedia ●Code of Conduct ●Developers ●Statistics ●Cookie statement ●Mobile view

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