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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessArachnodactyly, congenital contractural; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Arachnodactyly, congenital contractura, comprising altogether 32 curated genes according to the clinical signs

ID
AP9239
Number of genes
31 Accredited laboratory test
Examined sequence length
8,8 kb (Core-/Core-canditate-Genes)
114,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FBN28739NM_001999.4AD
CBS1656NM_000071.3AR
COL11A15421NM_001854.4AD
COL11A25211NM_080680.3AD
COL12A19192NM_004370.6AD, AR
COL2A14464NM_001844.5AD, AR
COL6A13087NM_001848.3AD, AR
COL6A23060NM_001849.4AD, AR
COL6A39534NM_004369.4AD, AR
COL9A12766NM_001851.6AR
COL9A22070NM_001852.4AR
COL9A32055NM_001853.4AR
ECEL12328NM_004826.4AR
FBN18616NM_000138.5AD
FKBP101749NM_021939.4AR
MYBPC13516NM_002465.4AD, AR
MYH35823NM_002470.4AD, AR
MYH85814NM_002472.3AD
NALCN5217NM_052867.4AD
PIEZO28259NM_022068.4AD, AR
PLOD22277NM_182943.3AR
SCARF22613NM_153334.7AR
SMAD21404NM_005901.6AD
SMAD31278NM_005902.4AD
TGFB21245NM_003238.6AD
TGFB31239NM_003239.5AD
TGFBR11512NM_004612.4AD
TGFBR21704NM_003242.6AD
TNNI2549NM_003282.4AD
TNNT3777NM_006757.4AD
TPM2855NM_003289.4AD

Informations about the disease

Synonyms
  • Alias: Beals syndrome (FBN2)
  • Alias: Congenital contractural arachnodactyly (FBN2)
  • Allelic: Macular degeneration, early-onset (FBN2)
  • Achondrogenesis, type II or hypochondrogenesis (COL2A1)
  • Arthrogryposis, distal, type 1A (TPM2)
  • Arthrogryposis, distal, type 1B (MYBPC1)
  • Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
  • Arthrogryposis, distal, type 2B1 (TNNI2)
  • Arthrogryposis, distal, type 2B2 (TNNT3)
  • Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
  • Arthrogryposis, distal, type 2B4 (TPM2)
  • Arthrogryposis, distal, type 3 (PIEZO2)
  • Arthrogryposis, distal, type 5 (PIEZO2)
  • Arthrogryposis, distal, type 5D Arthrogryposis, distal, type 5D (ECEL1)
  • Arthrogryposis, distal, with impaired proprioception a+ touch (PIEZO2)
  • Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
  • Bethlem myopathy 2 (COL12A1)
  • Boudin-Mortier syndrome (NPR3)
  • Bruck syndrome 1 (FKBP10)
  • Bruck syndrome 2 (PLOD2)
  • Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
  • Contractural arachnodactyly, congenital (FBN2)
  • Contractures, pterygia + spondylocarpostarsal fusion syndrome 1A (MYH3)
  • Contractures, pterygia + spondylocarpotarsal fusion syndrome 1B (MYH3)
  • Czech dysplasia (COL2A1)
  • Epiphyseal dysplasia, multiple, 2 (COL9A2)
  • Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
  • Epiphyseal dysplasia, multiple, 6 (COL9A1)
  • Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
  • Fibrochondrogenesis 1 (COL11A1)
  • Fibrochondrogenesis 2 (COL11A2)
  • Homocystinuria, B6-responsive + nonresponsive types (CBS)
  • Kniest dysplasia (COL2A1)
  • Legg-Calve-Perthes disease (COL2A1)
  • Lethal congenital contracture syndrome 4 (MYBPC1)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR2)
  • Loeys-Dietz syndrome 3 (SMAD3)
  • Loeys-Dietz syndrome 4 (TGFB2)
  • Loeys-Dietz syndrome 5 (TGFB3)
  • Loeys-Dietz syndrome [MONDO:0018954] (SMAD2)
  • MASS syndrome (FBN1)
  • Marden-Walker syndrome (PIEZO2)
  • Marfan syndrome (FBN1)
  • Marshall syndrome (COL11A1)
  • Myosclerosis, congenital (COL6A2)
  • Osteogenesis imperfecta, type XI (FKBP10)
  • Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
  • Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
  • SED congenita (COL2A1)
  • SMED Strudwick type (COL2A1)
  • Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
  • Spondyloperipheral dysplasia (COL2A1)
  • Stickler syndrome, type I (COL2A1)
  • Stickler syndrome, type II (COL11A1)
  • Stickler syndrome, type IV (COL9A1)
  • Stickler syndrome, type V (COL9A2)
  • Trismus-pseudocamptodactyly syndrome (MYH8)
  • Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
  • Ullrich congenital muscular dystrophy 2 (COL12A1)
  • Van den Ende-Gupta syndrome (SCARF2)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined