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Seckel syndrome

From Wikipedia, the free encyclopedia

Medical condition

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, ormicrocephalicprimordial dwarfism (also known asbird-headed dwarfism,Harper's syndrome,Virchow–Seckel dwarfism andbird-headed dwarf of Seckel^[1]) is an extremely rarecongenital nanosomic disorder. Inheritance isautosomal recessive.^[2] It is characterized byintrauterine growth restriction and postnataldwarfism with asmall head, narrow bird-like face with a beak-like nose, large eyes with down-slantingpalpebral fissures,^[3] recedingmandible andintellectual disability.

A mouse model has been developed.^[4] This mouse model is characterized by a severe deficiency ofATR protein.^[4] These mice have high levels of replicative stress andDNA damage. Adult Seckel mice display accelerated aging.^[4] These findings are consistent with theDNA damage theory of aging.

Symptoms and signs

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Symptoms include:^[5]

intellectual disability (more than half of the patients have an IQ below 50)
microcephaly
sometimespancytopenia (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

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It is believed to be caused by defects of genes onchromosome 3 and18. One form of Seckel syndrome can be caused by mutation in the gene encoding theataxia 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:^[6]

Type	OMIM	Gene	Locus
SCKL1	210600	ATR	3q23
SCKL2	606744	RBBP8	18q11
SCKL4	613676	CENPJ	13q12
SCKL5	613823	CEP152	15q21.1
SCKL6	614728	CEP63	3q22.2
SCKL7	614851	NIN	14q22.1
SCKL8	615807	DNA2	10q21.3
SCKL9	616777	TRAIP	3p21.31
SCKL10	617253	NSMCE2	8q24.13
SCKL11	620767	CEP295	11q21

Diagnosis

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There are 4 criteria for diagnosis:^[7]

Congenital Dwarfism and postnatal growth retardation
Microcephaly, large eyes, beak-like nose, narrow face, retrognathism, malocclusion
Mental handicap
Agenesis of the corpus callosum, cerebral cysts

Other abnormalities can be a supportive criteria, such as: anemia, pancytopenia, cleft lip/palate scoliosis or kyphoscoliosis.^[8]

Genetic testing can confirm diagnosis.^[5]

Treatment

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There is no cure for Seckel syndrome. Symptomatic treatment is available.^[9]^[10]

History

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The syndrome was named after German–American physicianHelmut Paul George Seckel^[11] (1900–1960). The synonym Harper's syndrome was named after pediatricianRita G. Harper.^[12]^[13]

References

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^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 fromthe original on 2021-03-05. Retrieved2011-01-07.
^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. Retrieved7 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 ^cMurga 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.
^^a ^b"Seckel Syndrome - Symptoms, Causes, Treatment | NORD".rarediseases.org. Retrieved2025-01-10.
^"Entry - #210600 - SECKEL SYNDROME 1; SCKL1 - OMIM".omim.org. Retrieved2025-01-10.
^Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019),"Seckel Syndrome",Syndromes: Rapid Recognition and Perioperative Implications (2 ed.), New York, NY: McGraw-Hill Education, retrieved2025-01-10
^Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019),"Seckel Syndrome",Syndromes: Rapid Recognition and Perioperative Implications (2 ed.), New York, NY: McGraw-Hill Education, retrieved2025-01-10
^"Seckel Syndrome - Symptoms, Causes, Treatment | NORD".rarediseases.org. Retrieved2025-01-10.
^Kelana, Andreas Dhymas Dhyna Martha; Windiani, Gusti Ayu Trisna; Arimbawa, Made; Adnyana, Gusti Agung Ngurah Sugitha; Yuda, Made Darma; Murti, Ni Luh Sukma Pratiwi; Soetjiningsih, Soetjiningsih (2023-01-04)."Case of Seckel Syndrome in a 9-month-old Girl".Open Access Macedonian Journal of Medical Sciences.11 (C):6–10.doi:10.3889/oamjms.2023.10988.ISSN 1857-9655.
^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

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Seckel's syndrome atWhonamedit?

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

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 Meier-Gorlin 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 (CACNA1C-related disorders,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 intellectual disability 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

Otherkinase/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

See alsointracellular signaling peptides and proteins

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 alsonucleus

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