U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Acampomelic campomelic dysplasia

MedGen UID:
396251
•Concept ID:
C1861923
•
Disease or Syndrome
Synonyms: Acampomelic Campomelic Dysplasia; Acampomelic Campomelic Dysplasias; Campomelic Dysplasia, Acampomelic; Campomelic Dysplasias, Acampomelic; Dysplasia, Acampomelic Campomelic; Dysplasias, Acampomelic Campomelic
 
OMIM®: 114290; 608160

Definition

A variant of campomelic dysplasia characterized by the absence of skeletal dysplasia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcampomelic campomelic dysplasia

Professional guidelines

PubMed

Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A, Rasicci DT, Hinds D, Mitchell JT, Zieba JK, Mills J, Arnold NE, Cook TW, Moustaqil M, Gambin Y, Sierecki E, Fontaine F, Vanderweele S, Das AS, Cvammen W, Sirpilla O, Soehnlen X, Bricker K, Alokaili M, Green M, Heeringa S, Wilstermann AM, Freeland TM, Qutob D, Milsted A, Jauch R, Triche TJ Jr, Krawczyk CM, Bupp CP, Rajasekaran S, Francois M, Prokop JW
Genes (Basel) 2023 Jan 14;14(1) doi: 10.3390/genes14010222. PMID: 36672963Free PMC Article
Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study.
Waratani M, Ito F, Tanaka Y, Mabuchi A, Mori T, Kitawaki J
BMC Musculoskelet Disord 2020 Oct 8;21(1):662. doi: 10.1186/s12891-020-03663-x. PMID: 33032557Free PMC Article
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.
Offiah AC, Vockley J, Munns CF, Murotsuki J
Pediatr Radiol 2019 Jan;49(1):3-22. Epub 2018 Oct 3 doi: 10.1007/s00247-018-4239-0. PMID: 30284005Free PMC Article

Recent clinical studies

Etiology

Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
Castori M, Bottillo I, Morlino S, Barone C, Cascone P; Pediatric Craniofacial Malformation (PECRAM) Study Group, Grammatico P, Laino L
Birth Defects Res A Clin Mol Teratol 2016 Jan;106(1):61-8. Epub 2015 Dec 11 doi: 10.1002/bdra.23463. PMID: 26663529
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.
Hill-Harfe KL, Kaplan L, Stalker HJ, Zori RT, Pop R, Scherer G, Wallace MR
Am J Hum Genet 2005 Apr;76(4):663-71. doi: 10.1086/429254. PMID: 15717285Free PMC Article
Acampomelic campomelic dysplasia with SOX9 mutation.
Thong MK, Scherer G, Kozlowski K, Haan E, Morris L
Am J Med Genet 2000 Aug 28;93(5):421-5. PMID: 10951468
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.
Savarirayan R, Bankier A
J Med Genet 1998 Jul;35(7):597-9. doi: 10.1136/jmg.35.7.597. PMID: 9678706Free PMC Article
Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal.
Ninomiya S, Isomura M, Narahara K, Seino Y, Nakamura Y
Hum Mol Genet 1996 Jan;5(1):69-72. doi: 10.1093/hmg/5.1.69. PMID: 8789441

Diagnosis

Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.
Takano T, Ota H, Ohishi H, Hata K, Furukawa R, Nakabayashi K
Eur J Med Genet 2021 Nov;64(11):104332. Epub 2021 Sep 2 doi: 10.1016/j.ejmg.2021.104332. PMID: 34481091
Spine malformation complex in 3 diverse syndromic entities: Case reports.
Kaissi AA, van Egmond-Fröhlich A, Ryabykh S, Ochirov P, Kenis V, Hofstaetter JG, Grill F, Ganger R, Kircher SG
Medicine (Baltimore) 2016 Dec;95(50):e5505. doi: 10.1097/MD.0000000000005505. PMID: 27977582Free PMC Article
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
Castori M, Bottillo I, Morlino S, Barone C, Cascone P; Pediatric Craniofacial Malformation (PECRAM) Study Group, Grammatico P, Laino L
Birth Defects Res A Clin Mol Teratol 2016 Jan;106(1):61-8. Epub 2015 Dec 11 doi: 10.1002/bdra.23463. PMID: 26663529
A case of acampomelic campomelic dysplasia.
Ozkilic A, Seven M, Yuksel A
Genet Couns 2002;13(1):23-8. PMID: 12017234
Acampomelic campomelic dysplasia.
Macpherson RI, Skinner SA, Donnenfeld AE
Pediatr Radiol 1989;20(1-2):90-3. doi: 10.1007/BF02010643. PMID: 2602025

Prognosis

A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations.
Wu N, Wang L, Hu J, Zhao S, Liu B, Li Y, Du H, Zhang Y, Li X, Yan Z, Wang S, Wang Y, Zhang J, Wu Z, Disco Deciphering Disorders Involving Scoliosis Comorbidities Study Group, Qiu G
Curr Gene Ther 2019;19(4):242-247. doi: 10.2174/1566523219666190924120307. PMID: 31549955
Spine malformation complex in 3 diverse syndromic entities: Case reports.
Kaissi AA, van Egmond-Fröhlich A, Ryabykh S, Ochirov P, Kenis V, Hofstaetter JG, Grill F, Ganger R, Kircher SG
Medicine (Baltimore) 2016 Dec;95(50):e5505. doi: 10.1097/MD.0000000000005505. PMID: 27977582Free PMC Article
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.
Sobreira NL, Gnanakkan V, Walsh M, Marosy B, Wohler E, Thomas G, Hoover-Fong JE, Hamosh A, Wheelan SJ, Valle D
Genome Res 2011 Oct;21(10):1720-7. Epub 2011 Sep 2 doi: 10.1101/gr.122986.111. PMID: 21890680Free PMC Article
Acampomelic campomelic dysplasia with SOX9 mutation.
Thong MK, Scherer G, Kozlowski K, Haan E, Morris L
Am J Med Genet 2000 Aug 28;93(5):421-5. PMID: 10951468
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.
Savarirayan R, Bankier A
J Med Genet 1998 Jul;35(7):597-9. doi: 10.1136/jmg.35.7.597. PMID: 9678706Free PMC Article

Clinical prediction guides

Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.
Takano T, Ota H, Ohishi H, Hata K, Furukawa R, Nakabayashi K
Eur J Med Genet 2021 Nov;64(11):104332. Epub 2021 Sep 2 doi: 10.1016/j.ejmg.2021.104332. PMID: 34481091
A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations.
Wu N, Wang L, Hu J, Zhao S, Liu B, Li Y, Du H, Zhang Y, Li X, Yan Z, Wang S, Wang Y, Zhang J, Wu Z, Disco Deciphering Disorders Involving Scoliosis Comorbidities Study Group, Qiu G
Curr Gene Ther 2019;19(4):242-247. doi: 10.2174/1566523219666190924120307. PMID: 31549955
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.
Sobreira NL, Gnanakkan V, Walsh M, Marosy B, Wohler E, Thomas G, Hoover-Fong JE, Hamosh A, Wheelan SJ, Valle D
Genome Res 2011 Oct;21(10):1720-7. Epub 2011 Sep 2 doi: 10.1101/gr.122986.111. PMID: 21890680Free PMC Article
A case of acampomelic campomelic dysplasia.
Ozkilic A, Seven M, Yuksel A
Genet Couns 2002;13(1):23-8. PMID: 12017234
Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal.
Ninomiya S, Isomura M, Narahara K, Seino Y, Nakamura Y
Hum Mol Genet 1996 Jan;5(1):69-72. doi: 10.1093/hmg/5.1.69. PMID: 8789441

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...