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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
PRENATAL DIAGNOSIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA.
Erdogdu E, Dilek N, Arisoy R, Tahaoglu AE, Karacor T, Andan C
Genet Couns 2016;27(4):533-535. PMID: 30226976

Recent clinical studies

Etiology

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
İli EG, Gezdirici A, Di Pietro E, Yergeau C, Braverman N
Am J Med Genet A 2022 Nov;188(11):3229-3235. Epub 2022 Aug 20 doi: 10.1002/ajmg.a.62959. PMID: 35986576
Chondrodysplasias and Aneurysmal Thoracic Aortopathy: An Emerging Tale of Molecular Intersection.
Verstraeten A, Meester J, Peeters S, Mortier G, Loeys B
Trends Mol Med 2020 Aug;26(8):783-795. Epub 2020 Jun 5 doi: 10.1016/j.molmed.2020.05.004. PMID: 32507656
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.
Klouwer FC, Huffnagel IC, Ferdinandusse S, Waterham HR, Wanders RJ, Engelen M, Poll-The BT
Neuropediatrics 2016 Aug;47(4):205-20. Epub 2016 Apr 18 doi: 10.1055/s-0036-1582140. PMID: 27089543
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 disorders: clinical characterization.
Monnens L, Heymans H
J Inherit Metab Dis 1987;10 Suppl 1:23-32. doi: 10.1007/BF01812844. PMID: 2446046

Diagnosis

Rare Causes of Hypercalcemia.
Saponaro F
Endocrinol Metab Clin North Am 2021 Dec;50(4):769-779. doi: 10.1016/j.ecl.2021.07.004. PMID: 34774247
Inherited ichthyosis: Syndromic forms.
Yoneda K
J Dermatol 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. PMID: 26945533
Approach to the Child with Hypercalcaemia.
Davies JH
Endocr Dev 2015;28:101-118. Epub 2015 Jun 12 doi: 10.1159/000380998. PMID: 26138838
Ellis-van Creveld syndrome.
Sasalawad SS, Hugar SM, Poonacha KS, Mallikarjuna R
BMJ Case Rep 2013 Jul 9;2013 doi: 10.1136/bcr-2013-009463. PMID: 23843404Free PMC Article
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

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
Gene cloning to clinical trials-the trials and tribulations of a life with collagen.
Boot-Handford RP
Int J Exp Pathol 2019 Feb;100(1):4-11. Epub 2019 Mar 26 doi: 10.1111/iep.12311. PMID: 30912609Free 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
Conradi-Hünermann-Happle syndrome.
Hartman RD, Molho-Pessach V, Schaffer JV
Dermatol Online J 2010 Nov 15;16(11):4. PMID: 21163155
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

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.
Poll-The BT, Gärtner J
Biochim Biophys Acta 2012 Sep;1822(9):1421-9. Epub 2012 Mar 28 doi: 10.1016/j.bbadis.2012.03.011. PMID: 22483868
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
Jansen's metaphyseal chondrodysplasia.
Sood A, Sama D, Sharma R, Rastogi S
Indian Pediatr 2000 Apr;37(4):435-40. PMID: 10781242
Lethal chondrodysplasia punctata.
Heselson NG, Cremin BJ, Beighton P
Clin Radiol 1978 Nov;29(6):679-84. doi: 10.1016/s0009-9260(78)80202-5. PMID: 737958

Clinical prediction guides

Human Genetics of Atrial Septal Defect.
Larsen LA, Hitz MP
Adv Exp Med Biol 2024;1441:467-480. doi: 10.1007/978-3-031-44087-8_24. PMID: 38884726
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
Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.
Akawi NA, Al-Gazali L, Ali BR
Clin Genet 2012 Aug;82(2):147-56. Epub 2011 Jul 18 doi: 10.1111/j.1399-0004.2011.01734.x. PMID: 21668896
Warfarin embryopathy: fetal manifestations.
Wainwright H, Beighton P
Virchows Arch 2010 Dec;457(6):735-9. Epub 2010 Oct 5 doi: 10.1007/s00428-010-0982-9. PMID: 20922410
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R
Am J Med Genet 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N. PMID: 8723100

Recent systematic reviews

Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.
Broeren E, Stover S, Bennett K, Giordano J, Galloway S, Lauzon J, Rust L, Suerink M, van Haeringen A; Australian Genomic Autopsy Study Team, Reimers R
Prenat Diagn 2024 Dec;44(13):1663-1670. Epub 2024 Sep 23 doi: 10.1002/pd.6649. PMID: 39313411
Obstetrics and neonatal outcomes of binder phenotype with antenatal diagnosis: A case report and literature review.
Bosco M, Simonetto C, Loreti S, Grisolia G, Garzon S, Franchi M, Uccella S, Raffaelli R
J Gynecol Obstet Hum Reprod 2024 Dec;53(10):102836. Epub 2024 Aug 22 doi: 10.1016/j.jogoh.2024.102836. PMID: 39181504
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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