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Seckel syndrome

MedGen UID:
78534
•Concept ID:
C0265202
•
Disease or Syndrome
Synonyms: Bird-headed dwarf; Bird-headed dwarf of Seckel; Bird-Headed Dwarfism; bird-headed dwarfism; Harper's syndrome; Microcephalic Primordial Dwarfism; Nanocephalic dwarf; Nanocephalic Dwarfism; nanocephalic Dwarfism; SCKL; Seckel Syndrome; Seckel-Type Dwarfism; Seckel-type Dwarfism; Virchow-Seckel 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

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
Trimouille A, Lasseaux E, Barat P, Deiller C, Drunat S, Rooryck C, Arveiler B, Lacombe D
Clin Genet 2018 Feb;93(2):374-377. Epub 2017 Sep 29 doi: 10.1111/cge.13074. PMID: 28617965
Nanocellulose-Based Interpenetrating Polymer Network (IPN) Hydrogels for Cartilage Applications.
Naseri N, Deepa B, Mathew AP, Oksman K, Girandon L
Biomacromolecules 2016 Nov 14;17(11):3714-3723. Epub 2016 Oct 25 doi: 10.1021/acs.biomac.6b01243. PMID: 27726351
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
ATR couples FANCD2 monoubiquitination to the DNA-damage response.
Andreassen PR, D'Andrea AD, Taniguchi T
Genes Dev 2004 Aug 15;18(16):1958-63. doi: 10.1101/gad.1196104. PMID: 15314022Free PMC Article

Diagnosis

Delineating the phenotype of RNU4ATAC-related spliceosomopathy.
Tabib A, Richmond CM, McGaughran J
Am J Med Genet A 2023 Apr;191(4):1094-1100. Epub 2023 Jan 9 doi: 10.1002/ajmg.a.63110. PMID: 36622817
Primordial dwarfism: an update.
Alkuraya FS
Curr Opin Endocrinol Diabetes Obes 2015 Feb;22(1):55-64. doi: 10.1097/MED.0000000000000121. PMID: 25490023
Visual vignette. Seckel syndrome.
Kumar KV, Aravinda K
Endocr Pract 2012 May-Jun;18(3):427. doi: 10.4158/EP11385VV. PMID: 22592053
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
Seckel syndrome.
Basak M, Mahapatra TK
Indian Pediatr 2002 Dec;39(12):1166. PMID: 12522284

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

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS
J Hum Genet 2023 Jul;68(7):469-475. Epub 2023 Mar 3 doi: 10.1038/s10038-023-01132-6. PMID: 36864288
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
Seckel syndrome with chromosomal 18 deletion.
Panigrahi I, Kaur S, Kulkarni K, Das R, Marwaha RK
Indian J Pediatr 2009 Dec;76(12):1270-1. Epub 2009 Dec 11 doi: 10.1007/s12098-009-0223-x. PMID: 20012807
Multiple intracranial aneurysms in a patient with Seckel syndrome.
D'Angelo VA, Ceddia AM, Zelante L, Florio FP
Childs Nerv Syst 1998 Jan-Feb;14(1-2):82-4. doi: 10.1007/s003810050181. PMID: 9548348

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
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
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS
Am J Hum Genet 2015 Mar 5;96(3):412-24. Epub 2015 Feb 26 doi: 10.1016/j.ajhg.2015.01.013. PMID: 25728776Free PMC Article
Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.
Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M
Am J Hum Genet 2000 Aug;67(2):498-503. Epub 2000 Jul 11 doi: 10.1086/303023. PMID: 10889046Free PMC Article
Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation.
Hori A, Tamagawa K, Eber SW, Westmeier M, Hansmann I
Acta Neuropathol 1987;74(4):397-401. doi: 10.1007/BF00687219. PMID: 3687392

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

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