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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

Genotype-phenotype correlations in disorders of peroxisome biogenesis.
Moser HW
Mol Genet Metab 1999 Oct;68(2):316-27. doi: 10.1006/mgme.1999.2926. PMID: 10527683
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

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
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
Growth charts for individuals with rhizomelic chondrodysplasia punctata.
Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB
Am J Med Genet A 2017 Jan;173(1):108-113. Epub 2016 Sep 12 doi: 10.1002/ajmg.a.37961. PMID: 27616591
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

Diagnosis

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
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

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
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
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
Jansen GA, Mihalik SJ, Watkins PA, Moser HW, Jakobs C, Heijmans HS, Wanders RJ
J Inherit Metab Dis 1997 Jul;20(3):444-6. doi: 10.1023/a:1005379406639. PMID: 9266377
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
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.
Landino J, Jnah AJ, Newberry DM, Iben SC
J Perinat Neonatal Nurs 2017 Oct/Dec;31(4):350-357. doi: 10.1097/JPN.0000000000000282. PMID: 29068853
Growth charts for individuals with rhizomelic chondrodysplasia punctata.
Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB
Am J Med Genet A 2017 Jan;173(1):108-113. Epub 2016 Sep 12 doi: 10.1002/ajmg.a.37961. PMID: 27616591
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

Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata.
Luisman T, Smith T, Ritchie S, Malone KE
Orphanet J Rare Dis 2021 Jul 6;16(1):300. doi: 10.1186/s13023-021-01889-z. PMID: 34229749Free 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
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC
Pediatr Radiol 2015 Jul;45(7):965-76. Epub 2015 Feb 3 doi: 10.1007/s00247-014-3257-9. PMID: 25646736
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
The neurology of rhizomelic chondrodysplasia punctata.
Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT
Orphanet J Rare Dis 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174. PMID: 24172221Free PMC Article

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