ESCOBAR Syndrome is the milder form of an otherwise fatal congenital condition correctly known as Multiple pterygium syndrome.
As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.
In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee.
Mutations in IRF6 cause Van der Woud syndromes (VWS) and Popliteal pterygium syndrome (PPS) has been reported for human (Lees et al.
Mutations in IRF6 gene are pathogenic for both Van der Woud syndromes (VWS) and Popliteal pterygium syndrome (PPS) (Kondo et al.
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes.
Pterygium syndrome (multiple pterygium syndrome: pterygium colli syndrome).
Multiple pterygium syndrome evolution of the phenotype J Med Genet 1987;24:733-49.
Multiple pterygium syndrome type Escobar in two brothers.
Multiple pterygium syndrome (Escobar syndrome)-a case report.
Popliteal pterygium syndrome
(PPS) with intra-alveolar syngnathia: A discussion of anesthetic and surgical considerations.