Epicanthal Folds in Down Syndrome

January 24, 2017

Epicanthal folds are commonly present in newborns. It is normal at the time of birth and disappear after 3 to 6 months of gestation period. In epicanthal folds, skin of upper eyelid shows folds which covers half of almost full caruncle and lean towards inner corner of eye. Asians are more common in epicanthic folds specially chinese, japanese and korean population. If epicanthic folds do not resolve on its own, then there may be a pathological condition behind epicanthic folds appearance. There are many diseases leading to epicanthic folds and down syndrome is one of them. Epicanthic folds appear as a minor symptom of down syndrome. In down syndrome, there is a disturbance in chromosomal distribution. Like epicanthic folds, It is also a congenital disease. People having down syndrome suffer from intellectual disability. Trisomy of chromosome no. 21 is a leading cause behind down syndrome.

This defect in chromosome no. 21 leads to many systemic complications and epicanthal folds are one of them. Patients with down syndrome have retarded growth and flatten facial features. Epicanthic folds are involved in facial features of epicanthal folds. It is so because trisomy of chromosome no. 21 in patient is also a main cause of epicanthic folds. So both down syndrome and epicanthic folds have same leading cause behind them. In both conditions, patient have elevated nose and flattened facial features. The tension of skin surface decreases in epicanthal folds which leads to mal distribution of tissues around eye and nasal bridge. When excessive tissues accumulate on eyelid, it leads to epicanthic folds covering most of caruncle.

Down syndrome show all features of epicanthic folds as minor symptoms, so these epicanthal folds shows the presence of down syndrome. It is considered a diagnostic parameter for down syndrome.
Patient with down syndrome have flat occiput and flat face with ears outward. Size of the head is small with flat nasal bridge. Brushfield spots and epicanthal folds are also its symptoms.
If epicanthal folds appear due to any other reason then epicanthoplasty can be performed to correct it but in case of down syndrome, the whole symptoms of syndrome are managed. Management of down syndrome involve genetic counseling, special care of child and standard immunizations. In adults, annual audiological and annual ophthalmological measures are monitored. Symptoms of down syndrome are decreased or eliminated by managing them. Special epicanthoplasty is not performed in down syndrome.

But other major surgeries like adenotonsillectomy and surgical repair of cardiac and gastrointestinal tract are performed. Mongolism is the term usually used for down syndrome because people with down syndrome have epicanthal folds and flatten facial features which resembles mongolian people. Epicanthal folds is not a life threatening or fatal complication of down syndrome like other complications including heart and gastrointestinal complications.  This was all about epicanthal folds appearance in down syndrome. At the end, we can say epicanthal folds in down syndrome do not require surgical treatment but will resolve on its own when down syndrome is managed.