Carney Complex-trismus-pseudocamptodactyly Syndrome

Description

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).

Clinical Features

Phenotypes and symptoms related to Carney Complex-trismus-pseudocamptodactyly Syndrome

  • Short stature
  • Talipes equinovarus
  • Narrow mouth
  • Camptodactyly of finger
  • Freckling
  • Distal arthrogryposis
  • Trismus
  • Cardiac myxoma

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Carney Complex-trismus-pseudocamptodactyly Syndrome Is also known as carney complex variant.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Carney Complex-trismus-pseudocamptodactyly Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel.

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 %
Test for Trismus-pseudocamptodactyly syndrome.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

MYH8
Specificity
100 %
Genes
100 %
Distal Arthrogryposis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8
Specificity
10 %
Genes
100 %
Distal Arthrogryposis Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8
Specificity
10 %
Genes
100 %
MYH8. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

MYH8
Specificity
100 %
Genes
100 %
Carney complex (sequence analysis of MYH8 gene).

By CGC Genetics (Portugal).

MYH8
Specificity
100 %
Genes
100 %
Arthrogryposis distal type 7 (sequence analysis of MYH8 gene).

By CGC Genetics (Portugal).

MYH8
Specificity
100 %
Genes
100 %
Distal Arthrogryposis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8
Specificity
10 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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