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Chondrodysplasia punctata

MedGen UID:
3052
•Concept ID:
C0008445
•
Disease or Syndrome
Synonym: Chondrodysplasia Punctata, Unclassified
SNOMED CT: Chondrodysplasia punctata (278715001); Chondrodysplasia punctata (stippled epiphyses) group (278715001)
 
Monarch Initiative: MONDO:0019701
Orphanet: ORPHA93442

Definition

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. [from NCI]

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
Prenatal diagnosis of chondrodysplasia punctata by sonography.
McNay MB
Obstet Gynecol 1991 Apr;77(4):645. PMID: 2053946
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 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
Peroxisome biogenesis disorders: genetics and cell biology.
Gould SJ, Valle D
Trends Genet 2000 Aug;16(8):340-5. doi: 10.1016/s0168-9525(00)02056-4. PMID: 10904262
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

Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.
Del Río-Martínez CJ, de León-Jiménez B, Ramos-Gómez LI, Martinez R, Durán-Mckinster C, Tosti A, Vázquez-Herrera NE
Pediatr Dermatol 2023 Mar;40(2):333-336. Epub 2022 Oct 20 doi: 10.1111/pde.15159. PMID: 36263758
Genetics of Inherited Ichthyoses and Related Diseases.
Fischer J, Bourrat E
Acta Derm Venereol 2020 Mar 25;100(7):adv00096. doi: 10.2340/00015555-3432. PMID: 32147747Free PMC Article
Inherited ichthyosis: Syndromic forms.
Yoneda K
J Dermatol 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. PMID: 26945533
Ocular manifestations of genetic skin disorders.
Jen M, Nallasamy S
Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2 doi: 10.1016/j.clindermatol.2015.11.008. PMID: 26903188
Conradi-Hünermann-Happle syndrome.
Hartman RD, Molho-Pessach V, Schaffer JV
Dermatol Online J 2010 Nov 15;16(11):4. PMID: 21163155

Therapy

Conradi-Hünermann-Happle syndrome.
Hartman RD, Molho-Pessach V, Schaffer JV
Dermatol Online J 2010 Nov 15;16(11):4. PMID: 21163155
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
Warfarin-induced brachytelephalangic chondrodysplasia punctata.
Herman TE, Siegel MJ
J Perinatol 2010 Jun;30(6):437-8. doi: 10.1038/jp.2010.28. PMID: 20508633
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
Prenatal exposure to phenytoin, facial development, and a possible role for vitamin K.
Howe AM, Lipson AH, Sheffield LJ, Haan EA, Halliday JL, Jenson F, David DJ, Webster WS
Am J Med Genet 1995 Sep 11;58(3):238-44. doi: 10.1002/ajmg.1320580309. PMID: 8533825

Prognosis

Management of Tracheobronchial Stenosis in Chondrodysplasia Punctata.
Lee JA, Patel KR, Smith AJ, Thompson DM
Laryngoscope 2024 Mar;134(3):1464-1468. Epub 2023 Jul 31 doi: 10.1002/lary.30920. PMID: 37522476
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
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
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
Peroxisomal disorders.
Moser HW, Bergin A, Cornblath D
Biochem Cell Biol 1991 Jul;69(7):463-74. doi: 10.1139/o91-070. PMID: 1724376

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
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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