The classic feature is a web that extends from the ischial tuberosity to the heel (the popliteal pterygium). This contains a cord of connective tissue. These webs may cause the patient to have difficulty walking.
It is also accompanied by other anomalies that may include:
(1) cleft palate and/or cleft lip
(2) lower lip pits
(3) micrognathia
(4) choanal atresia
(5) ankyloblepharon
(6) syndactyly
(7) talipes equinovarus
(8) short sternum
(9) bifid ribs
(10) spina bifida occulta
(11) genital anomalies
(12) nail abnormalities
The differential diagnosis includes van der Woude syndrome, which is another phenotype seen with IRF6 mutations.
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