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Seckel syndrome 8(SCKL8)

MedGen UID:
856014
•Concept ID:
C3891452
•
Disease or Syndrome
Synonym: SCKL8
 
Gene (location): DNA2 (10q21.3)
 
Monarch Initiative: MONDO:0014350
OMIM®: 615807

Definition

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997). For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). [from OMIM]

Clinical features

From HPO
Ectopic kidney
MedGen UID:
68661
•Concept ID:
C0238207
•
Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Spinal cord compression
MedGen UID:
11549
•Concept ID:
C0037926
•
Disease or Syndrome
External mechanical compression of the spinal cord.
See: Feature record | Search on this feature
Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
Micrognathia
MedGen UID:
44428
•Concept ID:
C0025990
•
Congenital Abnormality
Developmental hypoplasia of the mandible.
See: Feature record | Search on this feature
Kyphoscoliosis
MedGen UID:
154361
•Concept ID:
C0575158
•
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Convex nasal ridge
MedGen UID:
66809
•Concept ID:
C0240538
•
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

An Official American Thoracic Society/European Society of Intensive Care Medicine/Society of Critical Care Medicine Clinical Practice Guideline: Mechanical Ventilation in Adult Patients with Acute Respiratory Distress Syndrome.
Fan E, Del Sorbo L, Goligher EC, Hodgson CL, Munshi L, Walkey AJ, Adhikari NKJ, Amato MBP, Branson R, Brower RG, Ferguson ND, Gajic O, Gattinoni L, Hess D, Mancebo J, Meade MO, McAuley DF, Pesenti A, Ranieri VM, Rubenfeld GD, Rubin E, Seckel M, Slutsky AS, Talmor D, Thompson BT, Wunsch H, Uleryk E, Brozek J, Brochard LJ; American Thoracic Society, European Society of Intensive Care Medicine, and Society of Critical Care Medicine
Am J Respir Crit Care Med 2017 May 1;195(9):1253-1263. doi: 10.1164/rccm.201703-0548ST. PMID: 28459336
Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency.
Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L
J Pediatr Endocrinol Metab 2013;26(7-8):771-4. doi: 10.1515/jpem-2012-0397. PMID: 23612698

Recent clinical studies

Etiology

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.
Nerakh G, Vineeth VS, Tallapaka K, Nair L, Dalal A, Aggarwal S
Am J Med Genet A 2022 Jul;188(7):2139-2146. Epub 2022 Mar 17 doi: 10.1002/ajmg.a.62725. PMID: 35298084
Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review.
Monteiro A, Cortez GM, Granja MF, Agnoletto GJ, Kranich J, Padilha MVR, Aldana P, Hanel R
J Neurointerv Surg 2021 Feb;13(2):171-176. Epub 2020 Jun 10 doi: 10.1136/neurintsurg-2020-016069. PMID: 32522788
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
J Med Genet 2010 Dec;47(12):797-802. Epub 2009 Jul 29 doi: 10.1136/jmg.2009.067298. PMID: 19643772
Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients.
Bobabilla-Morales L, Corona-Rivera A, Corona-Rivera JR, Buenrostro C, García-Cobián TA, Corona-Rivera E, Cantú-Garza JM, García-Cruz D
Am J Med Genet A 2003 Dec 1;123A(2):148-52. doi: 10.1002/ajmg.a.20341. PMID: 14598338
IGF type 1 receptor ligand binding characteristics are altered in a subgroup of children with intrauterine growth retardation.
Ducos B, Cabrol S, Houang M, Perin L, Holzenberger M, Le Bouc Y
J Clin Endocrinol Metab 2001 Nov;86(11):5516-24. doi: 10.1210/jcem.86.11.7985. PMID: 11701730

Diagnosis

Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.
Khojah O, Alamoudi S, Aldawsari N, Babgi M, Lary A
Childs Nerv Syst 2021 Dec;37(12):3847-3860. Epub 2021 Aug 3 doi: 10.1007/s00381-021-05284-8. PMID: 34345934Free PMC Article
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev VV, Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA
BMC Med Genomics 2018 Feb 13;11(Suppl 1):8. doi: 10.1186/s12920-018-0326-1. PMID: 29504900Free PMC Article
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
J Med Genet 2010 Dec;47(12):797-802. Epub 2009 Jul 29 doi: 10.1136/jmg.2009.067298. PMID: 19643772
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements.
Thapa R, Mukherjee K
J Child Neurol 2010 Feb;25(2):231-3. Epub 2009 Apr 15 doi: 10.1177/0883073809332694. PMID: 19372093
Seckel-like syndrome: a patient with precocious puberty associated with nonclassical congenital adrenal hyperplasia.
Adiyaman P, Berberoğlu M, Aycan Z, Evliyaoğlu O, Ocal G
J Pediatr Endocrinol Metab 2004 Jan;17(1):105-10. doi: 10.1515/jpem.2004.17.1.105. PMID: 14960029

Therapy

ATR promotes cilia signalling: links to developmental impacts.
Stiff T, Casar Tena T, O'Driscoll M, Jeggo PA, Philipp M
Hum Mol Genet 2016 Apr 15;25(8):1574-87. Epub 2016 Feb 11 doi: 10.1093/hmg/ddw034. PMID: 26908596Free PMC Article
Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency.
Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L
J Pediatr Endocrinol Metab 2013;26(7-8):771-4. doi: 10.1515/jpem-2012-0397. PMID: 23612698
IGF type 1 receptor ligand binding characteristics are altered in a subgroup of children with intrauterine growth retardation.
Ducos B, Cabrol S, Houang M, Perin L, Holzenberger M, Le Bouc Y
J Clin Endocrinol Metab 2001 Nov;86(11):5516-24. doi: 10.1210/jcem.86.11.7985. PMID: 11701730
Acute myeloid leukaemia in a patient with Seckel syndrome.
Hayani A, Suarez CR, Molnar Z, LeBeau M, Godwin J
J Med Genet 1994 Feb;31(2):148-9. doi: 10.1136/jmg.31.2.148. PMID: 8182723Free PMC Article

Prognosis

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev VV, Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA
BMC Med Genomics 2018 Feb 13;11(Suppl 1):8. doi: 10.1186/s12920-018-0326-1. PMID: 29504900Free PMC Article
An Official American Thoracic Society/European Society of Intensive Care Medicine/Society of Critical Care Medicine Clinical Practice Guideline: Mechanical Ventilation in Adult Patients with Acute Respiratory Distress Syndrome.
Fan E, Del Sorbo L, Goligher EC, Hodgson CL, Munshi L, Walkey AJ, Adhikari NKJ, Amato MBP, Branson R, Brower RG, Ferguson ND, Gajic O, Gattinoni L, Hess D, Mancebo J, Meade MO, McAuley DF, Pesenti A, Ranieri VM, Rubenfeld GD, Rubin E, Seckel M, Slutsky AS, Talmor D, Thompson BT, Wunsch H, Uleryk E, Brozek J, Brochard LJ; American Thoracic Society, European Society of Intensive Care Medicine, and Society of Critical Care Medicine
Am J Respir Crit Care Med 2017 May 1;195(9):1253-1263. doi: 10.1164/rccm.201703-0548ST. PMID: 28459336
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
J Med Genet 2010 Dec;47(12):797-802. Epub 2009 Jul 29 doi: 10.1136/jmg.2009.067298. PMID: 19643772

Clinical prediction guides

A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Yadav N, Kirola L, Geetha TS, Mittal K, Kadandale J, Yogev Y, Birk OS, Gupta N, Balakrishnan P, Jana M, Gupta M, Kabra M, Thelma BK
Ann Hum Genet 2022 Sep;86(5):245-256. Epub 2022 Apr 22 doi: 10.1111/ahg.12469. PMID: 35451063
An Official American Thoracic Society/European Society of Intensive Care Medicine/Society of Critical Care Medicine Clinical Practice Guideline: Mechanical Ventilation in Adult Patients with Acute Respiratory Distress Syndrome.
Fan E, Del Sorbo L, Goligher EC, Hodgson CL, Munshi L, Walkey AJ, Adhikari NKJ, Amato MBP, Branson R, Brower RG, Ferguson ND, Gajic O, Gattinoni L, Hess D, Mancebo J, Meade MO, McAuley DF, Pesenti A, Ranieri VM, Rubenfeld GD, Rubin E, Seckel M, Slutsky AS, Talmor D, Thompson BT, Wunsch H, Uleryk E, Brozek J, Brochard LJ; American Thoracic Society, European Society of Intensive Care Medicine, and Society of Critical Care Medicine
Am J Respir Crit Care Med 2017 May 1;195(9):1253-1263. doi: 10.1164/rccm.201703-0548ST. PMID: 28459336
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AM, O'Driscoll M, Jeggo PA
PLoS Genet 2012;8(11):e1002945. Epub 2012 Nov 8 doi: 10.1371/journal.pgen.1002945. PMID: 23144622Free PMC Article
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling.
Alderton GK, Galbiati L, Griffith E, Surinya KH, Neitzel H, Jackson AP, Jeggo PA, O'Driscoll M
Nat Cell Biol 2006 Jul;8(7):725-33. Epub 2006 Jun 18 doi: 10.1038/ncb1431. PMID: 16783362
Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome.
Kjaer I, Hansen N, Becktor KB, Birkebaek N, Balslev T
Cleft Palate Craniofac J 2001 Nov;38(6):645-51. doi: 10.1597/1545-1569_2001_038_0645_cmdasm_2.0.co_2. PMID: 11681999

Recent systematic reviews

Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.
Khojah O, Alamoudi S, Aldawsari N, Babgi M, Lary A
Childs Nerv Syst 2021 Dec;37(12):3847-3860. Epub 2021 Aug 3 doi: 10.1007/s00381-021-05284-8. PMID: 34345934Free PMC Article
Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review.
Monteiro A, Cortez GM, Granja MF, Agnoletto GJ, Kranich J, Padilha MVR, Aldana P, Hanel R
J Neurointerv Surg 2021 Feb;13(2):171-176. Epub 2020 Jun 10 doi: 10.1136/neurintsurg-2020-016069. PMID: 32522788

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed
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