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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

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
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

Diagnosis

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
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

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
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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