Symptoms and Signs
- Limb findings: extensive web from behind the knee to the heel, malformed toenails, webbed toes
- Facial findings: cleft palate with or without cleft lip, pits in the lower lip, fibrous bands in the mouth (syngnathia), tissue connecting upper and lower eyelids
- Genital findings: hypoplasia of the labia majora, malformation of the scrotum, cryptorchidism
- Other findings: popliteal pterygium, distinct toe/nail abnormality, syndactyly
Genetics
- Autosomal dominant inheritance
- Mutation of the IRF6 gene
- Most cases are sporadic, suggesting new mutations
- Lethal PPS and PPS with Ectodermal Dysplasia are rare autosomal recessively inherited conditions
- Lethal PPS is differentiated by microcephaly, corneal aplasia, ectropion, bony fusions, hypoplastic nose, and absent thumbs
Relationship to Van der Woude syndrome
- Van der Woude syndrome and PPS are allelic variants of the same condition
- PPS includes all the features of VDWS, plus additional abnormalities
- Additional abnormalities in PPS include popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations
Diagnosis (currently empty)
Treatment (currently empty)
Epidemiology
- PPS has been diagnosed in several ethnic groups, including Caucasian, Japanese, and sub-Saharan African
- Males and females are equally likely to have the syndrome
- Incidence rate is difficult to estimate but is less than 1 in 300,000
Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome. The term PPS was coined by Gorlin et al. in 1968 on the basis of the most unusual anomaly, the popliteal pterygium (a web behind the knee).
Popliteal pterygium syndrome | |
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Lips and teeth in PPS | |
Specialty | Medical genetics ![]() |