IllnessCraniofacial microsomia, differential diagnosis

NGS +

[Sanger]

Group of diseases: (Hemifacial) microsomia associated with ear and/or eye malformations of variable severity. Additional malformations involving vertebrae, heart, kidneys, central nervous, digestive + skeletal systems may be associated.

• Alias: Oculo-auriculo-vertebral spectrum
• Allelic: Anterior segment anomalies with/-out cataract (EYA1)
• Allelic: Branchiootic syndrome 3 (SIX1)
• Allelic: Deafness, autosomal dominant 23 (SIX1)
• Allelic: Hypogonadotropic hypogonadism 5 with or without anosmia (CHD7)
• Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
• Allelic: Migraine, resistance to (EDNRA)
• Allelic: Multicentric carpotarsal osteolysis syndrome (MAFB)
• Allelic: Restrictive dermopathy, lethal (ZMPSTE24)
• Allelic: Townes-Brocks syndrome 1 (SALL1)
• Acrofacial dysostosis (SF3B4)
• Auriculocondylar syndrome 1 (GNAI3)
• Auriculocondylar syndrome 2 (PLCB4)
• Branchiooculofacial syndrome (TFAP2A)
• Branchiootic syndrome (EYA1)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• Branchiootorenal syndrome 2 (SIX5)
• CHARGE syndrome (CHD7)
• Duane retraction syndrome 2 (CHN1)
• Duane retraction syndrome 3 (MAFB)
• Duane-radial ray [Okihiro] syndrome (SALL4)
• IVIC syndrome (SALL4)
• Mandibuloacral dysplasia (LMNA)
• Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
• Mandibulofacial dysostosis with alopecia (EDNRA)
• Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
• Miller syndrome, included (DHODH)
• Oculo-auriculo-vertebral spectrum/Goldenhar syndrome [panelapp] (MYT1)
• Otofaciocervical syndrome (EYA1)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Treacher Collins syndrome 1 (TCOF)
• Treacher Collins syndrome 2 (POLR1D)