©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMünke syndrome/Saethre-Chotzen syndrome, differential diagnosis


Short information

Comprehensive differential diagnostic panel for Saethre-Chotzen/Münke syndrome comprising 3 or altogether 10 curated genes according to the clinical signs

Number of genes
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
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ALX41236NM_021926.4AD, AR

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


  • 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.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined