IllnessMuenke syndrome/Saethre-Chotzen syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Muenke-/Saethre-Chotzen syndrome comprising 3 core/core candidate genes and altogether 10 curated genes according to the clinical signs

SP3399

Number of loci

Locus type	Count
Gen	10

Accredited laboratory test

Examined sequence length

5,5 kb (Core-/Core-canditate-Genes)
17,8 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Loci

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
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

Informations about the disease

Clinical Comment

ORPHA:794 Saethre-Chotzen syndrome

Uni-/bilateral coronal synostosis, facial asymmetry, ptosis, strabismus + small ears with prominent superior and/or inferior crus + other symptoms

ORPHA:53271 Muenke syndrome; prevalence: Unknown (birth prevalence 1/30 000, accounting for 8% of all craniosynostoses)

Syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss + developmental delay

Synonyms

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)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined