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  |
