Lethal Congenital Contracture Syndrome 7; Lccs7

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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

View recommended genes panels

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.

Click here to know more about Mendelian.

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
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 Panel complete gene list SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, SCARF2, SLC39A13, CNTN1, ANTXR2, COL3A1, ALG2, ADCY6, CHST14, ZC4H2, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, ERCC6, FBN1, FBN2, GLE1, RIPK4, LMNA, MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB, CNTNAP1, CHMP1A, PIP5K1C, PITX1, PLOD2, PLOD3, PSMB8, RAPSN Specificity 2 % Genes 100 %
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 Panel complete gene list TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, FBN2, GLE1, LMNA, MUSK, MYBPC1, MYH3, MYH8, CNTNAP1, PIP5K1C, RAPSN Specificity 4 % 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 Panel complete gene list TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, FBN2, GLE1, LMNA, MUSK, MYBPC1, MYH3, MYH8, CNTNAP1, PIP5K1C, RAPSN Specificity 4 % Genes 100 %
Congenital contracture syndrome extended Deletion / Duplication 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 Panel complete gene list TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, FBN2, GLE1, LMNA, MUSK, MYBPC1, MYH3, MYH8, CNTNAP1, PIP5K1C, RAPSN Specificity 4 % Genes 100 %
Lethal congenital contracture syndrome and related disorders Comprehensive Panel. 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 Panel complete gene list VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1, PIP5K1C, RAPSN Specificity 5 % Genes 100 %
Lethal congenital contracture syndrome and related disorders NGS Panel. 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 Panel complete gene list VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1, PIP5K1C, RAPSN Specificity 5 % Genes 100 %
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel. 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 Panel complete gene list VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1, PIP5K1C, RAPSN Specificity 5 % Genes 100 %
Congenital Myasthenic Syndromes and Arthrogryposis Panel. 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 Panel complete gene list SCN4A, SNAP25, SYT2, TNNI2, TNNT3, TPM2, ADGRG6, SYNE1, FKBP10, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, ALG2, ADCY6, CHST14, ZC4H2, PIEZO2, DOK7, ALG14, DNM2, DPAGT1, PREPL, ECEL1, AGRN, ERBB3, FBN2, GFPT1, GLE1, LAMB2, LRP4, MUSK, MYBPC1, MYH3, MYH8, CNTNAP1, PIP5K1C, PLEC, PLOD2, RAPSN Specificity 3 % Genes 100 %

You can get up to 2 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If 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