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

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)

Analysis Duration

on request

Material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
TXNL4A	429	611595	AR
DHODH	1188	126064	AR
EFTUD2	2919	603892	AD
POLR1B	3538	602000	AD
POLR1C	1041	610060	AR
POLR1D	402	613715	AD, AR
SF3B4	1275	605593	AD
TCOF1	4467	606847	AD

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.

OMIM-Ps

ICD10 Code

F84.-

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