Lethal Congenital Contracture Syndrome Type 3

Description

Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.

Clinical Features

Phenotypes and symptoms related to Lethal Congenital Contracture Syndrome Type 3

  • Flexion contracture
  • Skeletal muscle atrophy
  • Respiratory insufficiency
  • Edema
  • Arthrogryposis multiplex congenita
  • Pterygium
  • Congenital contracture
  • Multiple joint contractures
  • Neurogenic bladder
  • Multiple pterygia

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

Lethal Congenital Contracture Syndrome Type 3 Is also known as lccs3, multiple contracture syndrome, israeli bedouin type b.

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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Lethal Congenital Contracture Syndrome Type 3 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
4 %
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
50 %
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
50 %
Arthrogryposis, distal type 1B (sequence analysis of MYBPC1 gene).

By CGC Genetics (Portugal).

MYBPC1
Specificity
100 %
Genes
50 %
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
50 %
Distal Arthrogryposis 1B via MYBPC1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

MYBPC1
Specificity
100 %
Genes
50 %
Congenital contracture syndrome extended NGS panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Congenital contracture syndrome extended Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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