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)
31,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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