IllnessBurn-McKeown syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Burn-McKeown syndrome comprising 9 curated genes according to the clinical signs
ID
BP2279
Number of genes
8
Accredited laboratory test
Examined sequence length
0,5 kb (Core-/Core-canditate-Genes)
15,3 kb (Extended panel: incl. additional genes)
15,3 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: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- Alias: Oculootofacial dysplasia
- Alias: TXNL4A-related craniofacial disorder
- Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
- Acrofacial dysostosis 1, Nager type (SF3B4)
- Burn-McKeown syndrome (TXNL4A)
- CHARGE Colob., Heart def., choanal Atresia, Ret. growth/dev., Genital hypopl., Ear anom. syn. (CHD7)
- Hypogonadotropic hypogonadism 5 +/- anosmia (CHD7)
- Mandibulofacial dysostosis without limb anomalies (SF3B4)
- Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
- Postaxial acrofacial dysostosis [Miller syndrome] (DHODH)
- Treacher Collins syndrome 1 (TCOF1)
- Treacher Collins syndrome 2 (POLR1D)
- Treacher Collins syndrome 3 (POLR1C)
- Treacher Collins syndrome 4 (POLR1B)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
F84.-
Bioinformatics and clinical interpretation
No text defined