IllnessArachnodactyly, congenital contractural; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Arachnodactyly, congenital contractura, comprising altogether 31 curated genes according to the clinical signs

AP9239

Number of loci

Loci type	Count
Gen	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

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FBN2	8739	612570	NM_001999.4	AD
CBS	1656	613381	NM_000071.3	AR
COL11A1	5421	120280	NM_001854.4	AD
COL11A2	5211	120290	NM_080680.3	AD
COL12A1	9192	120320	NM_004370.6	AD, AR
COL2A1	4464	120140	NM_001844.5	AD, AR
COL6A1	3087	120220	NM_001848.3	AD, AR
COL6A2	3060	120240	NM_001849.4	AD, AR
COL6A3	9534	120250	NM_004369.4	AD, AR
COL9A1	2766	120210	NM_001851.6	AR
COL9A2	2070	120260	NM_001852.4	AR
COL9A3	2055	120270	NM_001853.4	AR
ECEL1	2328	605896	NM_004826.4	AR
FBN1	8616	134797	NM_000138.5	AD
FKBP10	1749	607063	NM_021939.4	AR
MYBPC1	3516	160794	NM_002465.4	AD, AR
MYH3	5823	160720	NM_002470.4	AD, AR
MYH8	5814	160741	NM_002472.3	AD
NALCN	5217	611549	NM_052867.4	AD
PIEZO2	8259	613629	NM_022068.4	AD, AR
PLOD2	2277	601865	NM_182943.3	AR
SCARF2	2613	613619	NM_153334.7	AR
SMAD2	1404	601366	NM_005901.6	AD
SMAD3	1278	603109	NM_005902.4	AD
TGFB2	1245	190220	NM_003238.6	AD
TGFB3	1239	190230	NM_003239.5	AD
TGFBR1	1512	190181	NM_004612.4	AD
TGFBR2	1704	190182	NM_003242.6	AD
TNNI2	549	191043	NM_003282.4	AD
TNNT3	777	600692	NM_006757.4	AD
TPM2	855	190990	NM_003289.4	AD

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)
Alias: Beals-Hecht syndrome
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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined