Bruck Syndrome 1; Brks1
Description
Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997).
Clinical Features
Top most frequent phenotypes and symptoms related to Bruck Syndrome 1; Brks1
- Short stature
- Hearing impairment
- Scoliosis
- Flexion contracture
- Talipes equinovarus
- Kyphosis
- Severe short stature
- Osteoporosis
- Kyphoscoliosis
- Osteopenia
And another 27 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.)— The onset for some of the known clinical features related to this disease may vary, including congenital onset, and congenital onset .
Alternative names
Bruck Syndrome 1; Brks1 Is also known as arthrogryposis-like disorder, kuskokwim disease.
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.Bruck Syndrome 1; Brks1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
PLOD2 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PLOD2
Specificity
100 %
Genes
50 % |
PLOD2 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PLOD2
Specificity
100 %
Genes
50 % |
PLOD2 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PLOD2
Specificity
100 %
Genes
50 % |
Low Bone Mass Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)
View the complete list with 1 more genes
Specificity
10 %
Genes
100 % |
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 % |
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.
By Collagen Diagnostic Laboratory University of Washington (United States).
BMP1, SEC24D, SPARC, TNFRSF11B, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, GORAB, TAPT1, ALPL , (...)
View the complete list with 9 more genes
Specificity
7 %
Genes
100 % |
PLOD2 - Bruck syndrome 2.
By Centre of Molecular Diseases (CMM) CHUV (Switzerland).
PLOD2
Specificity
100 %
Genes
50 % |
You can get up to 69 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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