Autosomal dominant multiple pterygium syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics

Autosomal dominant multiple pterygium syndrome
Synonyms	Escobar syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Pterygium, webbed neck, skeletal abnormalities, facial dysmorphism
Complications	Respiratory distress, joint contractures
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the CHRNA1, CHRND, or CHRNG genes
Risks	Family history of the condition
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Arthrogryposis, Noonan syndrome, Turner syndrome
Prevention	Genetic counseling
Treatment	Physical therapy, surgical intervention
Medication	N/A
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths	N/A

1. REDIRECT Arthrogryposis.

NIH genetic and rare disease info

• NIH info on Autosomal dominant multiple pterygium syndrome

Autosomal dominant multiple pterygium syndrome is a rare disease.