IRF6 (Interferon regulatory factor-6)-related disorders are a group of orofacial clefting conditions.
Diagnosis and treatment IRF6 -related disorders are a group of orofacial clefting conditions, including Van der Woude syndrome and popliteal pterygium syndrome .
They may have a cleft lip, palate, submucous cleft palate , or a combination of these defects. Congenital paramedian lower-lip fistulae or tiny mounds with a sinus tract leading from a mucous lip gland are also common. Bifid scrotum and cryptorchidism are observed in males. Females can experience hypoplasia of the labia majora. Anomalies of the skin around the nails and characteristic pyramidal fold of skin overlying the nail of the hallux are also observed.IRF6-Gene IRF6 encodes a transcription factor from the IRF family. The IRF gene family influences immune system development and function. Throughout epidermal development, IRF6 protein expression is important.
On the first day of life, a 3.970 kg first-born female infant was referred to our neonatal intensive care unit with hypoglycemia and congenital syngnathia, rendering oral feeding impossible. Similarities with known asparagine missense mutations in the same codon are discussed, which may impact IRF6 gene activity by reducing DNA-binding capacity. Possible epigenetic changes could be aided by a concurrent maternal Xp11.22 duplication affecting two microRNA genes.
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