What are the signs and symptoms of ABCD syndrome?

May 16 23:44 2019 Print This Article

It is characterized by the albinism, black lock at the temporal occipital region. It was studied in the Kurdish girl. She had white eye brows and eyelashes. She had blue irises and the depigmentation of retina. She was almost deaf. The skin of affected individual was albino pale. There were brown patches on the depigmented skin. The black log refers to the thick patches of black hairs which are present above the ears. They are half circular in shape and reach to the other ear and form a crest.

The other features of this syndrome are:

-Few snow white hair

-Black locks of hair

-Poor vision


-Photophobia i.e. fear of light

Irises gray in color. Irises is the muscular diaphragm that controls the size of the pupil.

Presence of melanocytes in hair and skin excluding the leucodermal areas.

The people who are blind have gray irises. It also has the cell migration disorder which affects the nuerocytes of gut. The nerve cells do not work properly in the gut and causes the intestinal failure which does not allow the food to move along the digestive tract. It is referred as aganglionosis.

The patient also receives a low quality of hearing. This syndrome is normally a variation of the type 4 shah waardenburg syndrome. The waardenburg syndrome involves the loss of hair and hearing, hypo pigmentation of skin along with the hair, sensorinueral loss along with the disturbance in irides.

There are many similarities between this syndrome and ABCD syndrome. The waardenburg syndrome is an autosomal dominant disorder which affects the hair and skin by causing depigmentation. There is a white forelock and early graying of the hair. The eye brows are thick and iris is of different colors. The inner canthi are laterally displaced and have a broad nasal root. They also have black forelocks along with the congenital deafness.

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