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Chondrodysplasia

MedGen UID:
91012
•Concept ID:
C0343284
•
Congenital Abnormality
Synonym: chondrodysplasia
SNOMED CT: Chondrodysplasia (205465004)
 
Monarch Initiative: MONDO:0022723

Professional guidelines

PubMed

Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.
Vakkilainen S, Taskinen M, Mäkitie O
Scand J Immunol 2020 Oct;92(4):e12913. Epub 2020 Jun 22 doi: 10.1111/sji.12913. PMID: 32506568
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.
Al Kaissi A, Ghachem MB, Nabil NM, Kenis V, Melchenko E, Morenko E, Grill F, Ganger R, Kircher SG
Orthop Surg 2018 Aug;10(3):241-246. Epub 2018 Jul 19 doi: 10.1111/os.12382. PMID: 30027601Free PMC Article
Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.
Tomatsu S, Montaño AM, Oikawa H, Smith M, Barrera L, Chinen Y, Thacker MM, Mackenzie WG, Suzuki Y, Orii T
Curr Pharm Biotechnol 2011 Jun;12(6):931-45. doi: 10.2174/138920111795542615. PMID: 21506915

Recent clinical studies

Etiology

X-linked genodermatoses from diagnosis to tailored therapy.
Medori MC, Gisondi P, Bellinato F, Bonetti G, Micheletti C, Donato K, Dhuli K, Ergoren MC, Cristofoli F, Cecchin S, Marceddu G, Bertelli M
Clin Ter 2023 Nov-Dec;174(Suppl 2(6)):236-242. doi: 10.7417/CT.2023.2493. PMID: 37994770
Therapeutics Targeting FGF Signaling Network in Human Diseases.
Katoh M
Trends Pharmacol Sci 2016 Dec;37(12):1081-1096. Epub 2016 Oct 27 doi: 10.1016/j.tips.2016.10.003. PMID: 27992319
Peroxisomal disorders.
Aubourg P, Wanders R
Handb Clin Neurol 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. PMID: 23622381
Human peroxisomal disorders.
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827
Metaphyseal chondrodysplasia.
Spranger JW
Postgrad Med J 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480. PMID: 335375Free PMC Article

Diagnosis

Cholesterol metabolism deficiency.
Jira P
Handb Clin Neurol 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. PMID: 23622407
Peroxisomal disorders.
Aubourg P, Wanders R
Handb Clin Neurol 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. PMID: 23622381
Peroxisomal leukoencephalopathy.
Poll-The BT, Engelen M
Semin Neurol 2012 Feb;32(1):42-50. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306385. PMID: 22422205
Peroxisome biogenesis disorders.
Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW
Biochim Biophys Acta 2006 Dec;1763(12):1733-48. Epub 2006 Sep 14 doi: 10.1016/j.bbamcr.2006.09.010. PMID: 17055079
Human peroxisomal disorders.
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827

Therapy

Inherited fibroblast growth factor 23 excess.
Cherian KE, Paul TV
Best Pract Res Clin Endocrinol Metab 2024 Mar;38(2):101844. Epub 2023 Nov 28 doi: 10.1016/j.beem.2023.101844. PMID: 38044258
Progress on growth promoting therapies other than growth hormone.
Xue C, Fu J
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Aug 1;51(4):515-520. doi: 10.3724/zdxbyxb-2022-0099. PMID: 37202099Free PMC Article
Approach to the Child with Hypercalcaemia.
Davies JH
Endocr Dev 2015;28:101-118. Epub 2015 Jun 12 doi: 10.1159/000380998. PMID: 26138838
Functions of plasmalogen lipids in health and disease.
Braverman NE, Moser AB
Biochim Biophys Acta 2012 Sep;1822(9):1442-52. Epub 2012 May 22 doi: 10.1016/j.bbadis.2012.05.008. PMID: 22627108
Cartilage-derived morphogenetic protein-1.
Luyten FP
Int J Biochem Cell Biol 1997 Nov;29(11):1241-4. doi: 10.1016/s1357-2725(97)00025-3. PMID: 9451821

Prognosis

Carbohydrate sulfotransferases: a review of emerging diagnostic and prognostic applications.
Begolli G, Marković I, Knežević J, Debeljak Ž
Biochem Med (Zagreb) 2023 Oct 15;33(3):030503. Epub 2023 Aug 5 doi: 10.11613/BM.2023.030503. PMID: 37545696Free PMC Article
Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.
Vakkilainen S, Taskinen M, Mäkitie O
Scand J Immunol 2020 Oct;92(4):e12913. Epub 2020 Jun 22 doi: 10.1111/sji.12913. PMID: 32506568
Functions of plasmalogen lipids in health and disease.
Braverman NE, Moser AB
Biochim Biophys Acta 2012 Sep;1822(9):1442-52. Epub 2012 May 22 doi: 10.1016/j.bbadis.2012.05.008. PMID: 22627108
Peroxisomal leukoencephalopathy.
Poll-The BT, Engelen M
Semin Neurol 2012 Feb;32(1):42-50. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306385. PMID: 22422205
Human peroxisomal disorders.
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827

Clinical prediction guides

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ
PLoS Genet 2023 Jun;19(6):e1010796. Epub 2023 Jun 14 doi: 10.1371/journal.pgen.1010796. PMID: 37315079Free PMC Article
Peroxisomes in brain development and function.
Berger J, Dorninger F, Forss-Petter S, Kunze M
Biochim Biophys Acta 2016 May;1863(5):934-55. Epub 2015 Dec 11 doi: 10.1016/j.bbamcr.2015.12.005. PMID: 26686055Free PMC Article
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.
Malheiro AR, da Silva TF, Brites P
J Inherit Metab Dis 2015 Jan;38(1):111-21. Epub 2014 Nov 29 doi: 10.1007/s10545-014-9795-3. PMID: 25432520
Functions of plasmalogen lipids in health and disease.
Braverman NE, Moser AB
Biochim Biophys Acta 2012 Sep;1822(9):1442-52. Epub 2012 May 22 doi: 10.1016/j.bbadis.2012.05.008. PMID: 22627108
Peroxisomal disorders.
Moser HW, Bergin A, Cornblath D
Biochem Cell Biol 1991 Jul;69(7):463-74. doi: 10.1139/o91-070. PMID: 1724376

Recent systematic reviews

Hyperemesis gravidarum and vitamin K deficiency: a systematic review.
Nijsten K, van der Minnen L, Wiegers HMG, Koot MH, Middeldorp S, Roseboom TJ, Grooten IJ, Painter RC
Br J Nutr 2022 Jul 14;128(1):30-42. Epub 2021 Jul 30 doi: 10.1017/S0007114521002865. PMID: 34325760Free PMC Article
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Genovesi ML, Guadagnolo D, Marchionni E, Giovannetti A, Traversa A, Panzironi N, Bernardo S, Palumbo P, Petrizzelli F, Carella M, Mazza T, Pizzuti A, Caputo V
Bone 2021 Mar;144:115803. Epub 2021 Jan 12 doi: 10.1016/j.bone.2020.115803. PMID: 33333243
Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy.
Vogel TW, Menezes AH
Childs Nerv Syst 2012 Apr;28(4):609-19. Epub 2012 Jan 25 doi: 10.1007/s00381-012-1694-z. PMID: 22274407

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