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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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVChondrodysplasia punctata

Disorder by Site
- Connective and Soft Tissue Disorder
  - Musculoskeletal system disorder
    - Disorder of bone
      - Bone development disease
        Osteochondrodysplasia
        Chondrodysplasia punctata
        Astley-Kendall dysplasia
        Child syndrome
        Greenberg dysplasia
        Keutel syndrome
        Rhizomelic chondrodysplasia punctata
        Rhizomelic chondrodysplasia punctata type 1
        Rhizomelic chondrodysplasia punctata type 2
        Rhizomelic chondrodysplasia punctata type 3
        Rhizomelic chondrodysplasia punctata type 5

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 nonrhizomelic chondrodysplasia punctata (Conradi-Hünermann syndrome).

Pryde PG, Bawle E, Brandt F, Romero R, Treadwell MC, Evans MI
Am J Med Genet 1993 Sep 1;47(3):426-31. doi: 10.1002/ajmg.1320470327. PMID: 8135294

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

See all (15)

Recent clinical studies

Etiology

X-linked genodermatoses from diagnosis to tailored therapy.

Medori MC, Gisondi P, Bellinato F, Bonetti G, Micheletti C, Donato K, Dhuli K, Ergoren MC, Cristofoli F, Cecchin S, Marceddu G, Bertelli M
Clin Ter 2023 Nov-Dec;174(Suppl 2(6)):236-242. doi: 10.7417/CT.2023.2493. PMID: 37994770

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

The peroxisome and the eye.

Folz SJ, Trobe JD
Surv Ophthalmol 1991 Mar-Apr;35(5):353-68. doi: 10.1016/0039-6257(91)90185-i. PMID: 1710072

See all (174)

Diagnosis

Inherited ichthyosis: Syndromic forms.

Yoneda K
J Dermatol 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. PMID: 26945533

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

Conradi-Hünermann-Happle syndrome.

Hartman RD, Molho-Pessach V, Schaffer JV
Dermatol Online J 2010 Nov 15;16(11):4. PMID: 21163155

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

See all (326)

Therapy

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

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

Spinal deformity in chondrodysplasia punctata.

Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

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

See all (59)

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

Sterol metabolism disorders and neurodevelopment-an update.

Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009

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

Spinal deformity in chondrodysplasia punctata.

Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

See all (93)

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: 26686055 Free 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

Spinal deformity in chondrodysplasia punctata.

Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

Peroxisomal disorders.

Moser HW, Bergin A, Cornblath D
Biochem Cell Biol 1991 Jul;69(7):463-74. doi: 10.1139/o91-070. PMID: 1724376

See all (112)

Recent systematic reviews

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: 34325760 Free 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

See all (2)

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Chondrodysplasia punctata

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Practice guidelines

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