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X-linked chondrodysplasia punctata

MedGen UID:
538019
•Concept ID:
C0263627
•
Disease or Syndrome
Synonyms: Calcinosis universalis; chondrodysplasia punctata, X-linked; chondrodysplasia punctata, X-linked dominant; chondrodystrophia calcificans congenita; CPXD; X-linked dominant chondrodysplasia punctata
SNOMED CT: Calcinosis universalis (66924005)
 
Monarch Initiative: MONDO:0010556

Definition

X-linked form of chondrodysplasia punctata. [from MONDO]

Professional guidelines

PubMed

Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.
Subhashini P, Jaya Krishna S, Usha Rani G, Sushma Chander N, Maheshwar Reddy G, Naushad SM
J Biochem 2019 Jan 1;165(1):67-73. doi: 10.1093/jb/mvy085. PMID: 30295825
Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening.
ten Brink HJ, van den Heuvel CM, Christensen E, Largillière C, Jakobs C
Clin Chem 1993 Sep;39(9):1904-6. PMID: 8375069
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

Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. PMID: 25754886
Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.
Ochiai D, Takamura K, Nishimura G, Ikeda T, Yakubo K, Fukuiya T
Congenit Anom (Kyoto) 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003. PMID: 24712475
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N
Genet Med 2013 Aug;15(8):650-7. Epub 2013 Mar 7 doi: 10.1038/gim.2013.13. PMID: 23470839
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.
Gupta N, Ghosh M, Shukla R, Das GP, Kabra M
Clin Dysmorphol 2012 Jul;21(3):113-117. doi: 10.1097/MCD.0b013e32835439cd. PMID: 22581171

Diagnosis

A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
Zhou L, Peng Y, Chen J, Xi H, Wang S, Kang G, Tang W, Xie W
BMC Med Genomics 2024 Oct 18;17(1):253. doi: 10.1186/s12920-024-02029-9. PMID: 39425194Free PMC Article
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.
Woods E, Yates M, Kanani F, Balasubramanian M
Clin Dysmorphol 2022 Jul 1;31(3):132-135. Epub 2022 Mar 7 doi: 10.1097/MCD.0000000000000419. PMID: 35256563
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. PMID: 25754886
Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.
Ochiai D, Takamura K, Nishimura G, Ikeda T, Yakubo K, Fukuiya T
Congenit Anom (Kyoto) 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003. PMID: 24712475
Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome.
Boulet S, Dieterich K, Althuser M, Nugues F, Durand C, Charra C, Schaal JP, Jouk PS
Fetal Diagn Ther 2010;28(3):186-90. Epub 2010 Jun 3 doi: 10.1159/000297289. PMID: 20523025

Therapy

Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report.
Oba H, Takahashi J, Takano K, Inaba Y, Motobayashi M, Nishimura G, Kuraishi S, Shimizu M, Ikegami S, Futatsugi T, Uehara M, Kosho T, Kato H, Uno K
Spine (Phila Pa 1976) 2017 Dec 1;42(23):E1380-E1385. doi: 10.1097/BRS.0000000000002170. PMID: 28338574
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. PMID: 25754886

Prognosis

A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
Zhou L, Peng Y, Chen J, Xi H, Wang S, Kang G, Tang W, Xie W
BMC Med Genomics 2024 Oct 18;17(1):253. doi: 10.1186/s12920-024-02029-9. PMID: 39425194Free PMC Article
Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation.
He G, Yin Y, Zhao J, Wang X, Yang J, Chen X, Ding L, Bai Y
BMC Pediatr 2019 Jul 23;19(1):250. doi: 10.1186/s12887-019-1629-x. PMID: 31337364Free PMC Article
Radiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia.
Koç U, Karakaş P
Turk J Pediatr 2017;59(5):604-609. doi: 10.24953/turkjped.2017.05.018. PMID: 29745127
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA
Am J Med Genet A 2014 Apr;164A(4):1062-8. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36390. PMID: 24458983
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N
Genet Med 2013 Aug;15(8):650-7. Epub 2013 Mar 7 doi: 10.1038/gim.2013.13. PMID: 23470839

Clinical prediction guides

Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation.
He G, Yin Y, Zhao J, Wang X, Yang J, Chen X, Ding L, Bai Y
BMC Pediatr 2019 Jul 23;19(1):250. doi: 10.1186/s12887-019-1629-x. PMID: 31337364Free PMC Article
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA
Am J Med Genet A 2014 Apr;164A(4):1062-8. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36390. PMID: 24458983
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N
Genet Med 2013 Aug;15(8):650-7. Epub 2013 Mar 7 doi: 10.1038/gim.2013.13. PMID: 23470839
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G
Am J Med Genet A 2003 Mar 1;117A(2):164-8. doi: 10.1002/ajmg.a.10950. PMID: 12567415
Homologous genes for X-linked chondrodysplasia punctata in man and mouse.
Happle R, Phillips RJ, Roessner A, Jünemann G
Hum Genet 1983;63(1):24-7. doi: 10.1007/BF00285392. PMID: 6682087

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