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

IllnessFraser syndrome, differential diagnosis

Summary

Short information

A comprehensive panel comprising 3 or altogether 10 genes for the differenrential diagnosis of Fraser syndrome

ID
FP9266
Number of genes
9 Accredited laboratory test
Examined sequence length
24,8 kb (Core-/Core-canditate-Genes)
31,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
FRAS112039AR
FREM29510AR
GRIP13231AR
ALX1981AR
ALX31032AR
ALX41236AR
EFNB11041XLD
MKS11680AR
TWIST2483AD, AR

Informations about the disease

Synonyms
  • Alias: Cryptophthalmos syndrome
  • Alias: Cryptophthalmos with other malformations
  • Alias: Cryptophthalmos-syndactyly syndrome
  • Alias: Fraser-Francois syndrome
  • Alias: Meyer-Schwickerath syndrome
  • Alias: Ullrich-Feichtiger syndrome
  • Allelic: Barber-Say syndrome (TWIST2)
  • Allelic: Craniosynostosis 5, susceptibility to (ALX4)
  • Allelic: Focal facial dermal dysplasia 3, Setleis type (TWIST2)
  • Allelic: Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
  • Allelic: Parietal foramina 2 (ALX4)
  • Ablepharon-macrostomia syndrome (TWIST2)
  • Craniofrontonasal dysplasia (EFNB1)
  • Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
  • Fraser syndrome 1 (FRAS1)
  • Fraser syndrome 2 (FREM2)
  • Fraser syndrome 3 (GRIP1)
  • Frontonasal dysplasia 1 (ALX2)
  • Frontonasal dysplasia 2 (ALX4)
  • Frontonasal dysplasia 3 (ALX1)
  • Meckel syndrome 1 (MKS1)
  • Microphthalmia, syndromic 3 (SOX2)
  • Microphthalmia, syndromic 3 (TWIST2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q89.8

Bioinformatics and clinical interpretation

No text defined