BGDD

Escobar Syndrome is a milder form of multiple pterygium syndrome and is an autosomal recessive disorder. The prevalence of the disease is unknown. It is largely caused by mutations in the CHRNG gene. People with Escobar syndrome have webbing of the skin of the fingers, inner thighs, backs of the knee, forearms and the skin of the neck, in addition to droopy eyelids, epicanthal folds, cryptorchidism (in males), muscle weakness, low set ears, small jaw, scoliosis, and in some cases lung hypoplasia. The condition does not worsen over time after birth and affected individuals usually have no muscle weakness in their later years.

1. Cryptorchidism
2. Scoliosis
3. Lung hypoplasia
4. Ptosis (droopy eyelids)
5. Low set ears
6. Pterygium (skin webbing)

The first symptom is reduced fetal movement- either reported by mothers or diagnosed by ultrasound. Children are diagnosed after birth by observing evident characteristics such as face dysmorphism, retrognathism, multiple pterygia, variable joint contractures and respiratory distress.

Genetic screening, genetic counselling, genetic testing, avoiding consanguineous marriage.

Treatment is not direct and is largely symptomatic.