IllnessTreacher-Collins syndrome, differential diagnosis

NGS +

Treacher-Collins syndrome is a rare developmental disorder in which malformations of the face (eyelids, eye malpositions, colobomas, zygomatic bone, mandible defects, cleft palate), head and neck are observed. Often there is also hearing loss caused by malformations of the outer and inner ear. The disease is rarely inherited autosomal recessively, mostly autosomal dominantly, with high but incomplete penetrance and variable expressiveness. The diagnostic yield is about 97%, which is achieved almost exclusively by DNA sequence analysis, very rarely deletions are found. An inconspicuous genetic finding therefore does not mean an absolutely reliable exclusion of the clinical suspected diagnosis.

(Basic diagnostic genes: ###; additional genes: ###)

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1532/

• Alias: Mandibulofacial dysostosis [with microcephaly]
• Alias: Treacher Collins-Franceschetti syndrome
• Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
• Acrofacial dysostosis 1, Nager type (SF3B4)
• Burn-McKeown syndrome (TXNL4A)
• 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)