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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

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
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
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

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
Investigational methods for peroxisomal disorders.
Steinberg S, Jones R, Tiffany C, Moser A
Curr Protoc Hum Genet 2008 Jul;Chapter 17:Unit 17.6. doi: 10.1002/0471142905.hg1706s58. PMID: 18633975
Phytanic acid: production from phytol, its breakdown and role in human disease.
van den Brink DM, Wanders RJ
Cell Mol Life Sci 2006 Aug;63(15):1752-65. doi: 10.1007/s00018-005-5463-y. PMID: 16799769Free PMC Article
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
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.
Wanders RJ, Romeijn GJ
J Inherit Metab Dis 1998 Jun;21(3):309-12. doi: 10.1023/a:1005353129761. PMID: 9686383

Diagnosis

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
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis.
Tinnion RJ, Davidson N, Moran P, Wright M, Harigopal S
BMJ Case Rep 2011 Jun 19;2011 doi: 10.1136/bcr.01.2011.3747. PMID: 22692643Free PMC Article
Investigational methods for peroxisomal disorders.
Steinberg S, Jones R, Tiffany C, Moser A
Curr Protoc Hum Genet 2008 Jul;Chapter 17:Unit 17.6. doi: 10.1002/0471142905.hg1706s58. PMID: 18633975
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

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
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
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.
Oswald G, Lawson C, Raymond G, Golden WC, Braverman N
Am J Med Genet A 2011 Dec;155A(12):3160-3. Epub 2011 Nov 3 doi: 10.1002/ajmg.a.34331. PMID: 22052861
The import receptor Pex7p and the PTS2 targeting sequence.
Lazarow PB
Biochim Biophys Acta 2006 Dec;1763(12):1599-604. Epub 2006 Aug 22 doi: 10.1016/j.bbamcr.2006.08.011. PMID: 16996627
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
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
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
Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders.
de Vet EC, Biermann J, van den Bosch H
Eur J Biochem 1997 Jul 15;247(2):511-7. doi: 10.1111/j.1432-1033.1997.00511.x. PMID: 9266692

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