This website provides information on patients with mutations in the CHRNG gene, including clinical data, molecular data, management and research options.
The condition caused by mutations in the CHRNG gene is a multiple pterygium syndrome, previously known as Escobar syndrome, that is mainly characterized by joint contractures (arthrogryposis) and skin webbing (pterygia), but also reduced fetal movements, sucking difficulties during first days after birth, facial dysmorphism (characterized by micrognathia, small mouth, high arched palate, short and webbed neck, mild ptosis, downslanting palpebral fissures, and/or low set ears), short stature, mild–moderate scoliosis, and cryptorchidism. Intelligence is normal.
Not all individuals with a mutation in the CHRNG gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CHRNG gene.
Daniel Natera de Benito, MD, PhD, Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain, firstname.lastname@example.org
Andres Nascimento, MD, Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain, email@example.com