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Rhizomelic chondrodysplasia punctata(RCDP)

MedGen UID:
79471
•Concept ID:
C0282529
•
Disease or Syndrome
Synonym: RCDP
SNOMED CT: RCDP - Rhizomelic chondrodysplasia punctata (56692003); Chondrodysplasia punctata, autosomal recessive type (56692003); Rhizomelic chondrodysplasia punctata (56692003); Rhizomelic chondrodysplasia punctata syndrome (56692003); Chondrodysplasia punctata, rhizomelic type (56692003)
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:0015776
OMIM®: 215100
OMIM® Phenotypic series: PS215100
Orphanet: ORPHA177

Definition

A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRhizomelic chondrodysplasia punctata
Follow this link to review classifications for Rhizomelic chondrodysplasia punctata in Orphanet.

Professional guidelines

PubMed

Targeted carrier screening for four recessive disorders: high detection rate within a founder population.
Mathijssen IB, Henneman L, van Eeten-Nijman JM, Lakeman P, Ottenheim CP, Redeker EJ, Ottenhof W, Meijers-Heijboer H, van Maarle MC
Eur J Med Genet 2015 Mar;58(3):123-8. Epub 2015 Jan 30 doi: 10.1016/j.ejmg.2015.01.004. PMID: 25641760
Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.
Powers JM, Moser HW
Brain Pathol 1998 Jan;8(1):101-20. doi: 10.1111/j.1750-3639.1998.tb00139.x. PMID: 9458170Free PMC Article
Prenatal and perinatal diagnosis of peroxisomal disorders.
Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Tager JM, van den Bosch H
J Inherit Metab Dis 1989;12 Suppl 1:118-34. doi: 10.1007/BF01799291. PMID: 2509803

Recent clinical studies

Etiology

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
The importance of ether-phospholipids: a view from the perspective of mouse models.
da Silva TF, Sousa VF, Malheiro AR, Brites P
Biochim Biophys Acta 2012 Sep;1822(9):1501-8. Epub 2012 May 31 doi: 10.1016/j.bbadis.2012.05.014. PMID: 22659211
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
Therapeutic developments in peroxisome biogenesis disorders.
McGuinness MC, Wei H, Smith KD
Expert Opin Investig Drugs 2000 Sep;9(9):1985-92. doi: 10.1517/13543784.9.9.1985. PMID: 11060787

Diagnosis

A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
Wegwerth PJ, White AL, Stoway SD, Loken PR, Oglesbee D, Matern D, Tortorelli S, Raymond KM, Braverman NE, Gavrilov DK
J Inherit Metab Dis 2023 Nov;46(6):1159-1169. Epub 2023 Oct 31 doi: 10.1002/jimd.12682. PMID: 37747296
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
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
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
Wanders RJ, Waterham HR
Clin Genet 2005 Feb;67(2):107-33. doi: 10.1111/j.1399-0004.2004.00329.x. PMID: 15679822
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

Drosophila Courtship Conditioning As a Measure of Learning and Memory.
Koemans TS, Oppitz C, Donders RAT, van Bokhoven H, Schenck A, Keleman K, Kramer JM
J Vis Exp 2017 Jun 5;(124) doi: 10.3791/55808. PMID: 28605393Free PMC Article
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
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
Dranchak PK, Di Pietro E, Snowden A, Oesch N, Braverman NE, Steinberg SJ, Hacia JG
J Cell Biochem 2011 May;112(5):1250-8. doi: 10.1002/jcb.22979. PMID: 21465523Free PMC Article
Therapeutic developments in peroxisome biogenesis disorders.
McGuinness MC, Wei H, Smith KD
Expert Opin Investig Drugs 2000 Sep;9(9):1985-92. doi: 10.1517/13543784.9.9.1985. PMID: 11060787
Epilepsy in peroxisomal diseases.
Takahashi Y, Suzuki Y, Kumazaki K, Tanabe Y, Akaboshi S, Miura K, Shimozawa N, Kondo N, Nishiguchi T, Terada K, Orii T
Epilepsia 1997 Feb;38(2):182-8. doi: 10.1111/j.1528-1157.1997.tb01095.x. PMID: 9048670

Prognosis

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Fallatah W, Schouten M, Yergeau C, Di Pietro E, Engelen M, Waterham HR, Poll-The BT, Braverman N
J Inherit Metab Dis 2021 Jul;44(4):1021-1038. Epub 2021 Jan 26 doi: 10.1002/jimd.12349. PMID: 33337545
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
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

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
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
Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.
Roels F, Espeel M, De Craemer D
J Inherit Metab Dis 1991;14(6):853-75. doi: 10.1007/BF01800464. PMID: 1779645
Bile acids in peroxisomal disorders.
Van Eldere JR, Parmentier GG, Eyssen HJ, Wanders RJ, Schutgens RB, Vamecq J, Van Hoof F, Poll-The BT, Saudubray JM
Eur J Clin Invest 1987 Oct;17(5):386-90. doi: 10.1111/j.1365-2362.1987.tb01131.x. PMID: 2446876

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