Craniosynostosis 7; Crs7

Table of contents:

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

Description

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Genes related to Craniosynostosis 7; Crs7

SMAD6

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Craniosynostosis 7; Crs7

Delayed speech and language development
Craniosynostosis

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

Craniosynostosis 7; Crs7 Is also known as crs7, digenic, craniosynostosis 7, digenic.

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.

Craniosynostosis 7; Crs7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Connective Tissue Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...) View the complete list with 45 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2, SLC39A13, DSE, ADAMTS2, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ZNF469, CHST14, GORAB, FLCN, MFAP5, EFEMP2, ELN, FBLN5, FBN1, FBN2, FLNA, FOXE3, ABCC6, LOX, LTBP4, SMAD2, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, NOTCH2, ATP7A, PKD1, PKD2, PLOD1, B4GALT7, PRDM5, PRKG1, PTDSS1, PYCR1, ALDH18A1 Specificity 2 % Genes 100 %
Craniosynostosis. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States). RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...) View the complete list with 7 more genes Panel complete gene list RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, IL11RA, SMAD6, MSX2, POR, RECQL4 Specificity 4 % Genes 100 %
Connective Tissue Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3 , (...) View the complete list with 10 more genes Panel complete gene list SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, CBS, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, PLOD1, PLOD3, B3GAT3 Specificity 4 % Genes 100 %
Connective Tissue Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX , (...) View the complete list with 8 more genes Panel complete gene list SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, PLOD1, PLOD3 Specificity 4 % Genes 100 %
Connective Tissue Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX , (...) View the complete list with 8 more genes Panel complete gene list SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, ACTA2, SLC2A10, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, MFAP5, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, PLOD1, PLOD3 Specificity 4 % Genes 100 %
Aortic valve disease 2 (sequence analysis of SMAD6 gene). By CGC Genetics (Portugal). SMAD6 Specificity 100 % Genes 100 %
Heart Diseases - panels. By MGZ Medical Genetics Center (Germany). RIT1, RRAS, RYR2, SCN4B, SCN5A, SCO2, SDHA, BMPR2, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A3, SNTA1, SOS1, SOS2, TAZ, TBX1 , (...) View the complete list with 137 more genes Panel complete gene list RIT1, RRAS, RYR2, SCN4B, SCN5A, SCO2, SDHA, BMPR2, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A3, SNTA1, SOS1, SOS2, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB3, TGFBR1, TGFBR2, TLL1, TNNC1, TNNI3, TNNT2, TPM1, TRDN, MYOT, TTN, TTR, KDM6A, VCL, VCP, ACTA1, MYOZ2, GFM1, CACNA1C, SLC25A20, ACTC1, CALM1, CALM2, CRELD1, ZEB2, CASQ2, CAV3, CBL, SHOC2, LDB3, GATA5, ANKRD1, SELENON, ACTN2, ZFPM2, TAB2, SYNE2, SYNE1, FKRP, CFC1, POMGNT1, MTO1, CHKB, ADAMTSL4, POMT2, CITED2, SPRED1, CHD7, AARS2, ACAD9, AGK, COX15, MED13L, CPT1A, CPT2, A2ML1, GNE, CRYAB, CSRP3, NKX2-5, TMEM70, RBM20, DES, TMEM43, DMD, DNAH11, NEXN, DSC2, DSG2, DSP, PNPLA2, AGL, NKX2-6, ELN, EMD, ETFA, ETFB, ETFDH, FBN1, FKTN, FHL1, FLNC, AKAP9, FOXH1, GAA, GATA4, GATA6, GBE1, GDF1, GJA1, GLA, ANK2, HRAS, ABCC9, JAG1, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, KRAS, LAMP2, LARGE1, LMNA, LZTR1, SMAD6, MAP2K1, MAP2K2, KMT2D, MYBPC3, MYH6, MYH7, MYL2, MYL3, NF1, NODAL, NOTCH1, NOTCH2, NR2F2, NRAS, ACADM, ACADS, PKP2, PLEC, PLN, ACADVL, POMT1, PRKAG2, BAG3, PTPN11, RAF1, RASA2 Specificity 1 % Genes 100 %
Aortic valve disease type 2. By Centogene AG - the Rare Disease Company (Germany). SMAD6 Specificity 100 % Genes 100 %

You can get up to 10 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 MOYAMOYA DISEASE 5; MYMY5 BARDET-BIEDL SYNDROME 14; BBS14 ALBINISM, OCULOCUTANEOUS, TYPE VI; OCA6 VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD