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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); Chondrodysplasia punctata congenita (360507004); Chondrodysplasia calcificans (360507004)

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

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: 9458170 Free 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

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

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

Chondrodysplasia punctata presenting with tracheal obstruction.

Schweiger C, Nassar MN, Goebel D, Rutter MJ
Int J Pediatr Otorhinolaryngol 2017 Feb;93:100-102. Epub 2016 Dec 26 doi: 10.1016/j.ijporl.2016.12.022. PMID: 28109478

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

See all (174)

Diagnosis

Cholesterol metabolism deficiency.

Jira P
Handb Clin Neurol 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. PMID: 23622407

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

See all (325)

Therapy

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

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

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

Chondrodysplasia punctata-23 cases of a mild and relatively common variety.

Sheffield LJ, Danks DM, Mayne V, Hutchinson AL
J Pediatr 1976 Dec;89(6):916-23. doi: 10.1016/s0022-3476(76)80596-3. PMID: 993917

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

Genetics and molecular basis of human peroxisome biogenesis disorders.

Waterham HR, Ebberink MS
Biochim Biophys Acta 2012 Sep;1822(9):1430-41. Epub 2012 Apr 25 doi: 10.1016/j.bbadis.2012.04.006. PMID: 22871920

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

Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history.

Savarirayan R, Boyle RJ, Masel J, Rogers JG, Sheffield LJ
Am J Med Genet A 2004 Jan 15;124A(2):148-57. doi: 10.1002/ajmg.a.20383. PMID: 14699613

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

See all (92)

Clinical prediction guides

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

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

Genetics and molecular basis of human peroxisome biogenesis disorders.

Waterham HR, Ebberink MS
Biochim Biophys Acta 2012 Sep;1822(9):1430-41. Epub 2012 Apr 25 doi: 10.1016/j.bbadis.2012.04.006. PMID: 22871920

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 (111)

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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