Klinische FragestellungMuenke-Syndrom, Saethre-Chotzen-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Muenke- und Saethre-Chotzen-Syndrom mit 3 "core"-/"core candidate"-Genen bzw. zusammengenommen 10 kuratierten Genen gemäß klinischer Verdachtsdiagnose

SP3399

Anzahl Loci

Locus-Typ	Anzahl
Gen	10

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

5,5 kb (Core-/Core-canditate-Gene)
17,8 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

[Sanger]

Loci

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
FGFR2	2466	176943	NM_000141.5	AD
FGFR3	2421	134934	NM_000142.5	AD
TWIST1	609	601622	NM_000474.4	AD
ALX4	1236	605420	NM_021926.4	AD, AR
ERF	1647	611888	NM_006494.4	AD
MSX2	804	123101	NM_002449.5	AD
RECQL4	3628	603780	NM_004260.4	AR
SMAD6	1491	602931	NM_005585.5	AD
TCF12	2121	600480	NM_207036.2	AD
ZIC1	1344	600470	NM_003412.4	AD

Infos zur Erkrankung

Klinischer Kommentar

ORPHA:794 Saethre-Chotzen-Syndrom

Uni-/bilaterale Koronalsynostose, Gesichtsasymmetrie, Ptosis, Strabismus + kleine Ohren mit prominenten oberen und/oder unteren Rand + andere Symptome

ORPHA:53271 Muenke-Syndrom (macht 8% aller Kraniosynostosen aus)

Syndromische Kraniosynostose mit signifikanter phänotypischer Variabilität, gewöhnlich gekennzeichnet durch Koronalsynostose, Mittelgesichtsretrusion, Strabismus, Hörverlust + Entwicklungsverzögerung

Synonyme

Alias: Acrocephalosyndactyly, type III
Alias: Craniofacial dysostosis, type I
Alias: Crouzon craniofacial dysostosis
Alias: Muenke nonsyndromic coronal craniosynostosis
Allelic: Achondroplasia (FGFR3)
Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
Allelic: Aortic valve disease 2 (SMAD6)
Allelic: Apert syndrome (FGFR2)
Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
Allelic: Bent bone dysplasia syndrome (FGFR2)
Allelic: Bladder cancer, somatic (FGFR3)
Allelic: CATSHL syndrome (FGFR3)
Allelic: Cervical cancer, somatic (FGFR3)
Allelic: Colorectal cancer, somatic (FGFR3)
Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
Allelic: Gastric cancer, somatic (FGFR2)
Allelic: Hypochondroplasia (FGFR3)
Allelic: Jackson-Weiss syndrome (FGFR2)
Allelic: LADD syndrome (FGFR2)
Allelic: LADD syndrome (FGFR3)
Allelic: Lacrimo-auricolo-dento-digital syndrome (FGFR2)
Allelic: Nevus, epidermal, somatic (FGFR3)
Allelic: Parietal foramina 1 (MSX2)
Allelic: Parietal foramina 2 (ALX4)
Allelic: Parietal foramina with cleidocranial dysplasia (MSX2)
Allelic: Pfeiffer syndrome (FGFR2)
Allelic: Radioulnar synostosis, nonsyndromic (SMAD6)
Allelic: Robinow-Sorauf syndrome (TWIST1)
Allelic: SADDAN (FGFR3)
Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
Allelic: Scaphocephaly, maxillary retrusion, mental retardation (FGFR2)
Allelic: Spermatocytic seminoma, somatic (FGFR3)
Allelic: Sweeney-Cox syndrome (TWIST1)
Allelic: Thanatophoric dysplasia, type I (FGFR3)
Allelic: Thanatophoric dysplasia, type II (FGFR3)
Baller-Gerold syndrome (RECQL4)
Chitayat syndrome (ERF)
Craniosynostosis 1 (TWISt1)
Craniosynostosis 2 (MSX2)
Craniosynostosis 3 (TCF12)
Craniosynostosis 4 (ERF)
Craniosynostosis 5, susceptibility to (ALX4)
Craniosynostosis 6 (ZIC1)
Craniosynostosis 7, susceptibility to (SMAD6)
Craniosynostosis, midfacial hypoplasia, foot abnormalities (FGFR2)
Craniosynostosis, nonspecific (FGFR2)
Crouzon craniofacial dysostosis (FGFR2)
Crouzon syndrome with acanthosis nigricans (FGFR3)
FGFR2-related isolated coronal synostosis (FGFR2)
Frontonasal dysplasia 2 (ALX4)
Muenke syndrome (FGFR3)
RAPADILINO syndrome (RECQL4)
Rothmund-Thomson syndrome, type 2 (RECQL4)
Saethre-Chotzen syndrome (FGFR2)
Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
Structural brain anomalies with impaired intellectual development + craniosynostosis (ZIC1)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

Kein Text hinterlegt