Popliteal pterygium syndrome (PPS, OMIM:19500) is a rare autosomal dominant malformative disorder, characterized by orofacial, cutaneous, musculoskeletal, and genital anomalies [
1]. There is considerable phenotypic variability within and between families [
2]. An autosomal recessive form of PPS, described as lethal-type popliteal pterygium syndrome (LPPS, MIM 263650) and also known as Bartsocas-Papas syndrome, is also described [
3]. The incidence of PPS is approximately 1 in 300,000 live births [
4]. Major anomalies in PPS are cleft lip and/or palate, lower lip pits or sinuses, popliteal webbing, syndactylies, and a distinctive nail anomaly comprising a pyramidal skin fold extending from the base to the top of the nails [
1,
4]. Male patients may have bifid scrotum and cryptorchidism; hypoplastic labia majora are observed in females. Other clinical findings include oral adhesions, syngnathia, ankyloblepharon, talipes, spina bifida occulta, bifid ribs, and short sternum. There is no growth delay and intelligence is usually normal [
1]. The interferon regulatory factor-6 gene (
IRF6) on 1q32.2 was identified by Kondo
et al. as responsible for both PPS and Van der Woude syndrome (VWS), a more common oral cleft syndrome (VWS, MIM 119300) [
5].
We report on the first description of a Moroccan patient with popliteal pterygium syndrome carrying a missense mutation of the hotspot arginine 84.