Saturday, January 20

Little Girl With Blue Eyes From Ghana- Waardenburg syndrome


Waardenburg syndrome

According to Indian Journal Of Human Genetics, Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated.

It was first described in 1951. The syndrome was later found to have four types. For example, type II was identified in 1971, to describe cases where dystopia canthorum was not present. Some types are now split into subtypes, based upon the gene responsible for the condition.

Chogtaa From Upper West Region

waardenburg-ghana                                  waardenburg-ghana

Meet Chogtaa, she is 1 year 9 months old, from the Upper West Region in Ghana. She has a condition called Waardenberg syndrome. This condition is rare and occurs 1 in every 40,000 birth. Waardenburg syndrome is a group of genetic condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin and eyes. Some persons in Chogtaa’s family think she is under a curse.

Her mum says, she remembers a herbal Dr. telling her once that if you have gonorrhea while pregnant you give birth to such a child. She was actually telling the people seated at her clinic. She laughed and didn’t say anything. She attracts a lot of attention both negative and positive reasons but the negatives outweighs the positives. Some kids call her doll because of her eyes and she will normally shy away due to the attention. Waardenburg sydrome is not a curse, there are thousands of people leaving with this condition all over the world. Let’s take some time to read about it and help educate other mothers and family who might not be aware of its existence. You can Google black kids with blue eyes. You will be amazed what you find.

There is a campaign rolling out for help to support Chogtaa to undertake surgery to aid her in hearing. Afi Antonio is the person to contact on LinkedIn if you want to help Chogtaa.

Credit: Afi Antonio

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