Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).
Carney Complex-trismus-pseudocamptodactyly Syndrome Is also known as carney complex variant.
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)
View the complete list with 37 more genes
Specificity
2 %
Genes
100 % |
![]() By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).
MYH8
Specificity
100 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8
Specificity
10 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8
Specificity
10 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
MYH8
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
MYH8
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
MYH8
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8
Specificity
10 %
Genes
100 % |
You can check the following sources for additional information.
ORPHANET OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TUBEROUS SCLEROSIS 2; TSC2 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI FOVEAL HYPOPLASIA 1; FVH1 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; PPKCA1