IllnessKabuki syndrome, differential diagnosis

NGS +

[Sanger]

Kabuki syndrome is a rare congenital multisystem disorder with multiple features including typical facial features, postnatally reduced body length with slow growth, varying degrees of cognitive ability and skeletal malformations. Other organ systems (heart, urogenital system, gastrointestinal system, etc.) may be affected, although the symptoms may vary considerably between patients. Molecular genetic mutations are identified in 70% of cases, ¾ of which in the KMT2D gene, more rarely in the KDM6A gene; differential diagnosis is based on a range of almost ten genes in the panel.

References: https://www.ncbi.nlm.nih.gov/books/NBK62111/https://jmg.bmj.com/content/56/2/89

• Alias: Kabuki make-up syndrome
• Alias: Mental retardation, postnatal dwarfism
• Allelic: ALL1 related gene (KMT2D)
• Allelic: Anterior segment anomalies with/-out cataract (EYA1)
• Allelic: Atelosteogenesis, type I (FLNB)
• Allelic: Atelosteogenesis, type III (FLNB)
• Allelic: Boomerang dysplasia (FLNB)
• Allelic: Deafness, AD 23 (SIX1)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Myeloid/lymphoid or Mixed lineage leukemia 4 [MLL4] (KMT2D)
• Allelic: Myeloid/lymphoid or mixed lineage leukemia 2 [MLL2] (KMT2D)
• Allelic: Orofacial cleft 6 (IRF6)
• Allelic: Popliteal pterygium syndrome 1 (IRF6)
• Allelic: Spondylocarpotarsal synostosis syndrome (FLNB)
• Branchiootic syndrome 1 (EYA1)
• Branchiootic syndrome 3 (SIX1)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• Branchiootorenal syndrome 2 (SIX5)
• CHARGE syndrome (CHD7)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Kabuki-like syndrome [panelapp] (RAP1A)
• Kabuki-like syndrome [panelapp] (RAP1B)
• Larsen syndrome (FLNB)
• Otofaciocervical syndrome (EYA1)
• Renpenning syndrome (PQBP1)
• Ubiquitously Trancribed tetratricopeptide repeat gene on Y chromosome (UTY)
• van der Woude syndrome (IRF6)