I've been reading a number of postings that suggest that x-linked ichthyosis and learning disabilities or mental retardation are probably not connected. The genetic counsellors I'm seeing right now seem to be split on this.
I'm wondering if anyone has faced the same issues as my family. My grandmother, mother, and I are all carriers. My uncle has x-linked ichthosis and also appears to have had learning disabilities throughout his life. I had a brother who was born with x-linked ichthyosis, microcephaly (very small brain), cataracts, seizures, and severe growth development. He only lived to the age of 6.
One doctor suggests that my brothers condition could be caused by a deletion of multiple genes. He listed Kallmann syndrome, although Rud syndrome (which I found information about online) also appears to cover his condition.
I am so frustrated. The doctors seem to switch between thinking that my brothers condition was just a strange coincidence and that it is directly related to the x-linked ichthyosis. Can anyone help me? Has anyone else seen this type of condition in their family?
Thank you for your help.