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Spondyloenchondrodysplasia(SPENCD)

MedGen UID:
98477
•Concept ID:
C0432222
•
Disease or Syndrome
Synonyms: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes
SNOMED CT: Spondyloenchondromatosis (389268008); Spondyloenchondrodysplasia (254079002)
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)
 
Orphanet: ORPHA1855

Definition

Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondyloenchondrodysplasia
Follow this link to review classifications for Spondyloenchondrodysplasia in Orphanet.

Professional guidelines

PubMed

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.
Li W, Wang W, Wang W, Zhong L, Gou L, Wang C, Ma J, Quan M, Jian S, Tang X, Zhang Y, Wang L, Ma M, Song H
Front Immunol 2022;13:825367. Epub 2022 Mar 28 doi: 10.3389/fimmu.2022.825367. PMID: 35418997Free PMC Article

Recent clinical studies

Etiology

Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.
Akalın A, Taskiran EZ, Şimşek-Kiper PÖ, Utine E, Alanay Y, Özçelik U, Boduroğlu K
Am J Med Genet A 2021 Oct;185(10):3104-3110. Epub 2021 Jun 4 doi: 10.1002/ajmg.a.62378. PMID: 34089299
Toward a better understanding of type I interferonopathies: a brief summary, update and beyond.
Yu ZX, Song HM
World J Pediatr 2020 Feb;16(1):44-51. Epub 2019 Aug 3 doi: 10.1007/s12519-019-00273-z. PMID: 31377974
Type I interferonopathies in pediatric rheumatology.
Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M
Pediatr Rheumatol Online J 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. PMID: 27260006Free PMC Article
The genetics of type I interferon in systemic lupus erythematosus.
Bronson PG, Chaivorapol C, Ortmann W, Behrens TW, Graham RR
Curr Opin Immunol 2012 Oct;24(5):530-7. Epub 2012 Aug 10 doi: 10.1016/j.coi.2012.07.008. PMID: 22889593
Type I interferonopathies: a novel set of inborn errors of immunity.
Crow YJ
Ann N Y Acad Sci 2011 Nov;1238:91-8. doi: 10.1111/j.1749-6632.2011.06220.x. PMID: 22129056

Diagnosis

Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation.
Sait H, Gangadharan H, Gupta A, Aggarwal A, Jain M, Phadke SR
Indian J Pediatr 2021 Aug;88(8):819-823. Epub 2021 Mar 13 doi: 10.1007/s12098-020-03636-x. PMID: 33712926
Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.
Kara B, Ekinci Z, Sahin S, Gungor M, Gunes AS, Ozturk K, Adrovic A, Cefle A, Inanç M, Gul A, Kasapcopur O
Rheumatol Int 2020 Nov;40(11):1903-1910. Epub 2020 Jul 20 doi: 10.1007/s00296-020-04653-x. PMID: 32691099Free PMC Article
Type I interferonopathies in pediatric rheumatology.
Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M
Pediatr Rheumatol Online J 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. PMID: 27260006Free PMC Article
Enchondromatosis revisited: new classification with molecular basis.
Superti-Furga A, Spranger J, Nishimura G
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):154-64. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31331. PMID: 22791316
Enchondromatosis: insights on the different subtypes.
Pansuriya TC, Kroon HM, Bovée JV
Int J Clin Exp Pathol 2010 Jun 26;3(6):557-69. PMID: 20661403Free PMC Article

Therapy

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.
Li W, Wang W, Wang W, Zhong L, Gou L, Wang C, Ma J, Quan M, Jian S, Tang X, Zhang Y, Wang L, Ma M, Song H
Front Immunol 2022;13:825367. Epub 2022 Mar 28 doi: 10.3389/fimmu.2022.825367. PMID: 35418997Free PMC Article
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.
Kaya Akca U, Simsek Kiper PO, Urel Demir G, Sag E, Atalay E, Utine GE, Alikasifoglu M, Boduroglu K, Bilginer Y, Ozen S
Eur J Med Genet 2021 Apr;64(4):104185. Epub 2021 Mar 2 doi: 10.1016/j.ejmg.2021.104185. PMID: 33662637
Successful treatment of spondyloenchondrodysplasia with baricitinib.
Shimizu M, Inoue N, Mizuta M, Irabu H, Okajima M, Honda Y, Nihira H, Izawa K, Yachie A, Wada T
Rheumatology (Oxford) 2021 Feb 1;60(2):e44-e46. doi: 10.1093/rheumatology/keaa356. PMID: 32856090
Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.
Kara B, Ekinci Z, Sahin S, Gungor M, Gunes AS, Ozturk K, Adrovic A, Cefle A, Inanç M, Gul A, Kasapcopur O
Rheumatol Int 2020 Nov;40(11):1903-1910. Epub 2020 Jul 20 doi: 10.1007/s00296-020-04653-x. PMID: 32691099Free PMC Article
Toward a better understanding of type I interferonopathies: a brief summary, update and beyond.
Yu ZX, Song HM
World J Pediatr 2020 Feb;16(1):44-51. Epub 2019 Aug 3 doi: 10.1007/s12519-019-00273-z. PMID: 31377974

Prognosis

Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases.
Dri J, Dos Santos E, Pereyra M, Guillamondegui MJ, Ballester C, Tolin A, Gatica C
Arch Argent Pediatr 2024 Feb 1;122(1):e202303031. Epub 2023 Jul 6 doi: 10.5546/aap.2023-03031.eng. PMID: 37382551
Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations.
Sacri AS, Bruwier A, Baujat G, Breton S, Blanche S, Briggs TA, Bader-Meunier B
Pediatr Blood Cancer 2017 Feb;64(2):306-310. Epub 2016 Oct 8 doi: 10.1002/pbc.26195. PMID: 27718324
Genochondromatosis type II: report of a new patient and further delineation of the phenotype.
Isidor B, Guillard S, Hamel A, Le Caignec C, David A
Am J Med Genet A 2007 Aug 15;143A(16):1919-21. doi: 10.1002/ajmg.a.31854. PMID: 17632779
Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation.
Bayar A, Acun C, Dursun A, Verhoeven N, Bonafé L, Keser S, Superti-Furga A
Clin Dysmorphol 2005 Jan;14(1):7-11. PMID: 15602086

Clinical prediction guides

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.
Li W, Wang W, Wang W, Zhong L, Gou L, Wang C, Ma J, Quan M, Jian S, Tang X, Zhang Y, Wang L, Ma M, Song H
Front Immunol 2022;13:825367. Epub 2022 Mar 28 doi: 10.3389/fimmu.2022.825367. PMID: 35418997Free PMC Article
Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation.
Sait H, Gangadharan H, Gupta A, Aggarwal A, Jain M, Phadke SR
Indian J Pediatr 2021 Aug;88(8):819-823. Epub 2021 Mar 13 doi: 10.1007/s12098-020-03636-x. PMID: 33712926
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.
An J, Briggs TA, Dumax-Vorzet A, Alarcón-Riquelme ME, Belot A, Beresford M, Bruce IN, Carvalho C, Chaperot L, Frostegård J, Plumas J, Rice GI, Vyse TJ, Wiedeman A, Crow YJ, Elkon KB
Arthritis Rheumatol 2017 Jan;69(1):131-142. Epub 2016 Dec 2 doi: 10.1002/art.39810. PMID: 27390188
Type I interferonopathies in pediatric rheumatology.
Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M
Pediatr Rheumatol Online J 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. PMID: 27260006Free PMC Article
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ
J Clin Immunol 2016 Apr;36(3):220-34. Epub 2016 Mar 8 doi: 10.1007/s10875-016-0252-y. PMID: 26951490Free PMC Article

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