Lethal Congenital Contracture Syndrome 7; Lccs7
Description
Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).
Genes related to Lethal Congenital Contracture Syndrome 7; Lccs7
- CNTNAP1
Clinical Features
Top most frequent phenotypes and symptoms related to Lethal Congenital Contracture Syndrome 7; Lccs7
- Generalized hypotonia
- Micrognathia
- Cleft palate
- Flexion contracture
- Areflexia
- Polyhydramnios
- Paralysis
- Arthrogryposis multiplex congenita
- Decreased fetal movement
- Knee flexion contracture
And another 7 symptoms. If you need more information about this disease we can help you.
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.
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.Lethal Congenital Contracture Syndrome 7; Lccs7 Recommended genes panels
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 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
4 %
Genes
100 % |
![]() 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
4 %
Genes
100 % |
![]() 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
4 %
Genes
100 % |
![]() By Connective Tissue Gene Tests (United States).
VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
![]() By Connective Tissue Gene Tests (United States).
VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
![]() By Connective Tissue Gene Tests (United States).
VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
![]() By CeGaT GmbH (Germany).
SCN4A, SNAP25, SYT2, TNNI2, TNNT3, TPM2, ADGRG6, SYNE1, FKBP10, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, ALG2, ADCY6, CHST14 , (...)
View the complete list with 24 more genes
Specificity
3 %
Genes
100 % |
You can get up to 2 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF BEHR SYNDROME; BEHRS DANON DISEASE ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3; ALL3 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY