Hi, I'm from Venezuela and my niece, a doctor, diagnosed her with Kondoh syndrome ... there is no information about this syndrome in this country, only the one the doctor gave. but I would like to know more about this syndrome
The syndrome is very rare and characterized by a small head, vision problems, etc. What symptoms are present?
She was born with bilateral congenital cataracts, the doctor who diagnosed her with the syndrome saw that her eyes are separated, the small ears, the thin upper lip and spots on the skin
What are the symptoms of people with this syndrome?
My niece have 3 year old She was operated at year the cataracts and this caused her to have a delay in many things, like walking etc
Patients are usually short, have a small head and an unusual face, cataracts, shortness of the fingers and toes, fine hair and developmental delay. Was genetic testing done?
What types of test must be done to determine the syndrome?
The geneticist gave him a temporary genetic report. because I order the study of cormosomes; to determine if he had dow syndrome, which was expected to be negative to corroborate that he had kondoh simdrome