ARCL3B, also known as de Barsy syndrome B, is a rare congenital disorder characterized by a progeria like appearance, intrauterine and postnatal growth retardation, ophthalmological abnormalities, skeletal deformities and cutis laxa. Dysmorphic features usually include large fontanelles, a prominent forehead, large low-set ears, a pinched nose and sparse hair. Skin is usually thin, translucent and wrinkled with prominent superficial blood vessels. Ophthalmological anomalies may include cataracts, corneal opacities and congenital glaucoma. Skeletal findings usually include adducted thumbs, flexion deformities and congenital hip dislocation. Patients affected by the disorder suffer from global developmental delay and a failure to thrive. De Barsy syndrome has been reported in fewer than 50 cases worldwide. It has been found to affect males and females equally.
Treatment for this multi-system disorder is symptomatic. Surgery can help treat ophthalmological abnormalities while physiotherapy may help improve joint contractures.