Seckel syndrome

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Seckel syndrome
Classification and external resources
ICD-10	Q87.1
OMIM	210600
DiseasesDB	31625

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 a 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 an antimongoloid slant^{[citation needed]}, receding mandible and mental retardation.

A mouse model has been developed.^[3]

Genetics

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

History

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]

Symptoms

Symptoms include:

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

External links

Seckel's syndrome at Who Named It?

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.
↑ 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.
↑ http://www.whonamedit.com/synd.cfm/869.html
↑ 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
multiple abnormalities (Q87, 759.7)

Craniofacial

Acrocephalosyndactylia Apert syndrome/Pfeiffer syndrome Saethre–Chotzen syndrome Carpenter syndrome Sakati–Nyhan–Tisdale syndrome

other:	Möbius syndrome Goldenhar syndrome Cyclopia Baller–Gerold syndrome

Short stature

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

Laurence–Moon–Bardet–Biedl

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	Neurofibromatosis type I Watson syndrome Tuberous sclerosis

Guanine nucleotide exchange factor	Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1

G protein

Heterotrimeic	cAMP/GNAS1: Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2

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	PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis

Signal transducing adaptor proteins

Other

NF2
- Neurofibromatosis type II
NOTCH3
- CADASIL
PRKAR1A
- Carney complex
PRKAG2
- Wolff–Parkinson–White syndrome
PRKCSH
- PRKCSH Polycystic liver disease
XIAP
- XIAP2

See also intracellular signaling peptides and proteins

B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
DNA/RNA/protein synthesis
- drep
- trfc
- tscr
- tltn
membrane
- icha
- slcr
- atpa
- abct
- othr
transduction
- iter
- csrc
- itra
trfk

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 B structural perx skel cili mito nucl sclr DNA/RNA/protein synthesis drep trfc tscr tltn membrane icha slcr atpa abct othr transduction iter csrc itra trfk

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