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Van der Woude syndrome (VDWS) and popliteal pterygium syndrome (PPS) are allelic variants of the same condition; that is, they are caused by different mutations of the same gene. PPS includes all the features of VDWS, plus popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations. [7]
Bartsocas-Papas syndrome is caused by genetic mutations. [2] These can be hereditary, when parents pass them down to their children, or they may occur randomly.Genetic mutations may also result from viruses, environmental factors, e.g. UV radiation from sunlight exposure, or a combination of these factors.
The clinical signs seen in VWS are similar to those of popliteal pterygium syndrome (PPS), which is also an autosomal dominant disease. Approximately 46% of affected individuals have lip pits; other features include genital abnormalities, abnormal skin near nails, syndactyly of fingers and toes, and webbed skin.
Popliteal pterygium syndrome (PPS): Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, first described by Trelat in 1869. The clinical features of the syndrome are highly variable and show different combinations of anomalies like cleft palate, cleft lip, lower lip pits or sinuses, popliteal webbing, syndactyly ...
A mutation of the IRF6 gene can lead to the autosomal dominant van der Woude syndrome (VWS) [9] or the related popliteal pterygium syndrome (PPS). [10] Van der Woude syndrome can include cleft lip and palate features along with dental anomalies and lip fistulas.
Popliteal pterygium syndrome lethal type; Popliteal pterygium syndrome; Porencephaly cerebellar hypoplasia malformations; Porencephaly; Porokeratosis of Mibelli; Porokeratosis plantaris palmaris et disseminata; Porokeratosis punctata palmaris et plantaris; Porphyria; Porphyria cutanea tarda, familial type; Porphyria cutanea tarda, sporadic type
These symptoms can also be associated with coronary heart disease or abnormal heart rhythms and are a red flag that should be evaluated, he notes. Inability to lie flat and breathe comfortably.
Popliteal pterygium syndrome, a congenital condition affecting the face, limbs, or genitalia but named after the wing-like structural anomaly behind the knee. Pterygium (eye) or surfer's eye, a growth on the cornea of the eye. Pterygium colli or webbed neck, a congenital skin fold of the neck down to the shoulders.