Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities.

[2] It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria (premature aging).

[8] A study by Reversade et al. (2009) has shown that recessive mutations in PYCR1 or ALD18A1, the genetic sequences that codes for mitochondrial enzymes that synthesize L-proline, are prevalent in cases of autosomal recessive cutis laxa (ARCL), a condition very similar to De Barsy syndrome.

[9][10] A study by Leao-Teles et al. has shown that De Barsy syndrome may be related to mutations in ATP6V0A2 gene, known as ATP6V0A2-CDG by the new naming system.

[4][2] Individuals are diagnosed by recognition symptoms, a thorough patient history, laboratory tests and clinical evaluation.

Children with De Barsy syndrome can be helped with physical therapy and early developmental intervention.