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Seckel syndrome(SCKL1)

MedGen UID:
78534
•Concept ID:
C0265202
•
Disease or Syndrome
Synonyms: Bird-headed dwarfism; Nanocephalic dwarfism; SCKL1; Seckel-type dwarfism
SNOMED CT: Seckel syndrome (57917004); Bird-headed dwarf of Seckel (57917004); Nanocephalic dwarf (57917004); Bird-headed dwarf (57917004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019342
OMIM® Phenotypic series: PS210600
Orphanet: ORPHA808

Definition

A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSeckel syndrome
Follow this link to review classifications for Seckel syndrome in Orphanet.

Professional guidelines

PubMed

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
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome.
Birkebaek NH, Wolthers OD, Heuch C, Balslev T, Flyvbjerg A, Frystyk J
J Pediatr Endocrinol Metab 2011;24(11-12):995-1000. doi: 10.1515/jpem.2011.369. PMID: 22308854
Prenatal diagnosis of Seckel Syndrome on 3-dimensional sonography and magnetic resonance imaging.
Napolitano R, Maruotti GM, Quarantelli M, Martinelli P, Paladini D
J Ultrasound Med 2009 Mar;28(3):369-74. doi: 10.7863/jum.2009.28.3.369. PMID: 19244074

Recent clinical studies

Etiology

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.
Dinçer T, Yorgancıoğlu-Budak G, Ölmez A, Er İ, Dodurga Y, Özdemir ÖM, Toraman B, Yıldırım A, Sabir N, Akarsu NA, Semerci CN, Kalay E
Eur J Hum Genet 2017 Oct;25(10):1118-1125. Epub 2017 Aug 23 doi: 10.1038/ejhg.2017.120. PMID: 28832566Free PMC Article
Primordial dwarfism: overview of clinical and genetic aspects.
Khetarpal P, Das S, Panigrahi I, Munshi A
Mol Genet Genomics 2016 Feb;291(1):1-15. Epub 2015 Sep 1 doi: 10.1007/s00438-015-1110-y. PMID: 26323792
The Fanconi anemia ID2 complex: dueling saxes at the crossroads.
Boisvert RA, Howlett NG
Cell Cycle 2014;13(19):2999-3015. doi: 10.4161/15384101.2014.956475. PMID: 25486561Free PMC Article
Mechanisms and pathways of growth failure in primordial dwarfism.
Klingseisen A, Jackson AP
Genes Dev 2011 Oct 1;25(19):2011-24. doi: 10.1101/gad.169037. PMID: 21979914Free PMC Article
Clinical and genetic heterogeneity of Seckel syndrome.
Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V
Am J Med Genet 2002 Nov 1;112(4):379-83. doi: 10.1002/ajmg.10677. PMID: 12376940

Diagnosis

Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature.
Donmez YN, Giray D, Epcacan S, Goktas E, Aypar E
Cardiol Young 2022 Mar;32(3):487-490. Epub 2021 Aug 13 doi: 10.1017/S1047951121003097. PMID: 34387179
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
Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature.
Akkurt MO, Pakay K, Akkurt I, Temur M, Korkmazer E
J Matern Fetal Neonatal Med 2019 Jun;32(11):1905-1908. Epub 2017 Dec 28 doi: 10.1080/14767058.2017.1419467. PMID: 29284336
Seckel syndrome and moyamoya.
Codd PJ, Scott RM, Smith ER
J Neurosurg Pediatr 2009 Apr;3(4):320-4. doi: 10.3171/2008.12.PEDS08205. PMID: 19338412
An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.
O'Driscoll M, Gennery AR, Seidel J, Concannon P, Jeggo PA
DNA Repair (Amst) 2004 Aug-Sep;3(8-9):1227-35. doi: 10.1016/j.dnarep.2004.03.025. PMID: 15279811

Therapy

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M
Biochim Biophys Acta Mol Basis Dis 2017 Jan;1863(1):15-20. Epub 2016 Sep 14 doi: 10.1016/j.bbadis.2016.09.011. PMID: 27639833
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
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome.
Birkebaek NH, Wolthers OD, Heuch C, Balslev T, Flyvbjerg A, Frystyk J
J Pediatr Endocrinol Metab 2011;24(11-12):995-1000. doi: 10.1515/jpem.2011.369. PMID: 22308854
A case of cleft lip and palate associated with Seckel syndrome.
Murthy J, Seshadri KG, Ramanan PV, Rajamani A, Hussain A
Cleft Palate Craniofac J 2004 Mar;41(2):202-5. doi: 10.1597/02-087. PMID: 14989682
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

Prognosis

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B, Luise-Becker L, Martins N, Picker-Minh S, Bessa P, Arts P, Jackson MR, Taranath A, Kamien B, Barnett C, Li N, Tarabykin V, Stoltenburg-Didinger G, Harel A, Selbach M, Dickmanns A, Fahrenkrog B, Hu H, Scott H, Kaindl AM
Hum Mol Genet 2021 Nov 1;30(22):2068-2081. doi: 10.1093/hmg/ddab160. PMID: 34170319Free PMC Article
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M
Biochim Biophys Acta Mol Basis Dis 2017 Jan;1863(1):15-20. Epub 2016 Sep 14 doi: 10.1016/j.bbadis.2016.09.011. PMID: 27639833
Microdeletion 3q syndrome.
Ramieri V, Tarani L, Costantino F, Basile E, Liberati N, Rinna C, Cascone P, Colloridi F
J Craniofac Surg 2011 Nov;22(6):2124-8. doi: 10.1097/SCS.0b013e3182323cdf. PMID: 22067867
Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. Case report and review of the literature.
Hopkins TE, Haines SJ
J Neurosurg 2003 May;98(5):1113-5. doi: 10.3171/jns.2003.98.5.1113. PMID: 12744374
Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies.
Silengo M, Del Monaco A, Linari A, Lala R
Am J Med Genet 2001 Jul 1;101(3):275-8. doi: 10.1002/ajmg.1384. PMID: 11424145

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
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B, Luise-Becker L, Martins N, Picker-Minh S, Bessa P, Arts P, Jackson MR, Taranath A, Kamien B, Barnett C, Li N, Tarabykin V, Stoltenburg-Didinger G, Harel A, Selbach M, Dickmanns A, Fahrenkrog B, Hu H, Scott H, Kaindl AM
Hum Mol Genet 2021 Nov 1;30(22):2068-2081. doi: 10.1093/hmg/ddab160. PMID: 34170319Free PMC Article
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M
Biochim Biophys Acta Mol Basis Dis 2017 Jan;1863(1):15-20. Epub 2016 Sep 14 doi: 10.1016/j.bbadis.2016.09.011. PMID: 27639833
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
Growth hormone treatment, final height, insulin-like growth factors, ghrelin, and adiponectin in four siblings with Seckel syndrome.
Birkebaek NH, Wolthers OD, Heuch C, Balslev T, Flyvbjerg A, Frystyk J
J Pediatr Endocrinol Metab 2011;24(11-12):995-1000. doi: 10.1515/jpem.2011.369. PMID: 22308854

Recent systematic reviews

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

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