Campomelic dysplasia

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

Sex reversal

Development of the reproductive system is inconsistent with the chromosomal sex.


Total: 32

                       


(per page)
PMID (PMCID)
29695406
(5983176)
 FEMALE Infant, Newborn
A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.
Antwi P, Hong CS, Duran D, Jin SC, Dong W, DiLuna M, Kahle KT.
Cold Spring Harb Mol Case Stud. 2018;4(3):.
Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal.
24821304
 FEMALE Infant
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.
Walters-Sen LC, Thrush DL, Hickey SE, Hashimoto S, Reshmi S, Gastier-Foster JM, Pyatt RE, Astbury C.
Eur J Med Genet. 2014;57(7):315-8.
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by Pierre Robin sequence (PRS), shortened and bowed long bones, airway instability, and the potential for sex reversal.
21962881
 MALE Infant, Newborn
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene.
Chen SY, Lin SJ, Tsai LP, Chou YY.
Urology. 2012;79(4):908-11.
Campomelic dysplasia (CD) is a rare autosomal dominant skeletal malformation with or without sex reversal.
21218044
(3012840)
 MALE Infant
A case of campomelic dysplasia without sex reversal.
Kim HY, Yoon CH, Kim GH, Yoo HW, Lee BS, Kim KS, Kim EA.
J Korean Med Sci. 2011;26(1):143-5.
A case of campomelic dysplasia without sex reversal.
21614988
 MIXED_SAMPLE Infant, Newborn
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.
Stoeva R, Grozdanova L, Scherer G, Krasteva M, Bausch E, Krastev T, Linev A, Stefanova M.
Genet Couns. 2011;22(1):49-53.
Campomelic dysplasia (CD, MIM 114290) is a rare, often lethal, dominantly inherited, congenital skeletal dysplasia, associated with male-to-female autosomal sex reversal and due to de novo mutations of the SOX9 gene, a tissue-specific transcription factor gene involved both in skeletogenesis and male sexual differentiation.
21614988
 MIXED_SAMPLE Infant, Newborn
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.
Stoeva R, Grozdanova L, Scherer G, Krasteva M, Bausch E, Krastev T, Linev A, Stefanova M.
Genet Couns. 2011;22(1):49-53.
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.
20453475
 MIXED_SAMPLE Infant, Newborn
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.
Jakubiczka S, Schroder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P.
Sex Dev. 2010;4(3):143-9.
Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal.
20453475
 MIXED_SAMPLE Infant, Newborn
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.
Jakubiczka S, Schroder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P.
Sex Dev. 2010;4(3):143-9.
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.
17352389
 FEMALE Infant, Newborn
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.
Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung SW, Mazurczak T, Stankiewicz P.
Am J Med Genet A. 2007;143A(8):866-70.
Haploinsufficiency of SOX9, a master gene in chondrogenesis and testis development, leads to the semi-lethal skeletal malformation syndrome campomelic dysplasia (CD), with or without XY sex reversal.
17204049
 MIXED_SAMPLE Infant, Newborn
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.
Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, Yatsenko SA, Lupski JR, Lane AH, Shanske AL, Stankiewicz P, Scherer G.
Clin Genet. 2007;71(1):67-75.
The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or without XY sex reversal is caused by mutations within the SOX9 gene on 17q24.3 or by chromosomal aberrations (translocations, inversions or deletions) with breakpoints outside the SOX9 coding region.
17185244
 MIXED_SAMPLE Infant, Newborn
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal.
Hsiao HP, Tsai LP, Chao MC, Tseng HI, Chang YC.
J Formos Med Assoc. 2006;105(12):1013-6.
Campomelic dysplasia (CD; OMIM #114290) is an autosomal dominant, frequently lethal dysplasia syndrome whose primary features include angular bowing and shortening of the limbs, and sex reversal in the majority of affected XY individuals.
17185244
 MIXED_SAMPLE Infant, Newborn
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal.
Hsiao HP, Tsai LP, Chao MC, Tseng HI, Chang YC.
J Formos Med Assoc. 2006;105(12):1013-6.
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal.
15806394
 FEMALE Infant, Newborn
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.
Pop R, Zaragoza MV, Gaudette M, Dohrmann U, Scherer G.
Hum Genet. 2005;117(1):43-53.
Campomelic dysplasia (CD; MIM 114290), an autosomal dominant skeletal malformation syndrome with XY sex reversal, is caused by heterozygous de novo mutations in and around the SOX9 gene on 17q.
15726498
 FEMALE Infant, Newborn
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.
Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P.
Am J Hum Genet. 2005;76(4):652-62.
Campomelic dysplasia (CD) is a semilethal skeletal malformation syndrome with or without XY sex reversal.
12783851
 MIXED_SAMPLE Infant, Newborn
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
Sock E, Pagon RA, Keymolen K, Lissens W, Wegner M, Scherer G.
Hum Mol Genet. 2003;12(12):1439-47.
Campomelic dysplasia (CD) is a semilethal osteochondrodysplasia, characterized by skeletal anomalies that include bending of the long bones, and by XY sex reversal.
11446414
 MALE
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.
Jakubiczka S, Bettecken T, Koch G, Tuysuz B, Wollnik B, Wieacker P.
Clin Dysmorphol. 2001;10(3):197-201.
Here, we report on a Turkish patient with a 46,XY karyotype affected by campomelic dysplasia without sex reversal.
11446414
 MALE
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.
Jakubiczka S, Bettecken T, Koch G, Tuysuz B, Wollnik B, Wieacker P.
Clin Dysmorphol. 2001;10(3):197-201.
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.
11323423
 FEMALE Infant, Newborn
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
Preiss S, Argentaro A, Clayton A, John A, Jans DA, Ogata T, Nagai T, Barroso I, Schafer AJ, Harley VR.
J Biol Chem. 2001;276(30):27864-72.
Human mutations in the transcription factor SOX9 cause campomelic dysplasia/autosomal sex reversal.
11323423
 FEMALE Infant, Newborn
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
Preiss S, Argentaro A, Clayton A, John A, Jans DA, Ogata T, Nagai T, Barroso I, Schafer AJ, Harley VR.
J Biol Chem. 2001;276(30):27864-72.
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
10588843
 MIXED_SAMPLE Infant, Newborn
Autosomal XX sex reversal caused by duplication of SOX9.
Huang B, Wang S, Ning Y, Lamb AN, Bartley J.
Am J Med Genet. 1999;87(4):349-53.
Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal.