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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessApert syndrome


Short information

Curated single gene sequence analysis according to the clinical suspicion Apert syndrome

Number of genes
1 Accredited laboratory test
Examined sequence length
2,5 kb (Core-/Core-canditate-Genes)
- (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

Informations about the disease

Clinical Comment

Acrocephalosyndactyly: craniosynostosis, midface hypoplasia, finger + toe anomalies and/or syndactyly


  • Alias: Acrocephalosyndactyly V
  • Alias: Acrocephalosyndactyly syndrome, type II
  • Alias: Acrocephalosyndactyly type 1
  • Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Allelic: Bent bone dysplasia syndrome (FGFR2)
  • Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Allelic: Craniosynostosis nonspecific (FGFR2)
  • Allelic: Crouzon syndrome (FGFR2)
  • Allelic: Gastric cancer, somatic (FGFR2)
  • Allelic: Jackson-Weiss syndrome (FGFR2)
  • Allelic: LADD syndrome (FGFR2)
  • Allelic: Lacrimo-auricolo-dento-digital syndrome (FGFR2)
  • Allelic: Pfeiffer syndrome (FGFR2)
  • Allelic: Saethre-Chotzen syndrome (FGFR2)
  • Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Allelic: Scaphocephaly with maxillary retrusion + mental retardation (FGFR2)
Heredity, heredity patterns etc.
  • AD
ICD10 Code

Bioinformatics and clinical interpretation

No text defined