Puberty (female)

Puberty (female)

I have a child with CdLS who just turned 11 but according to psychological testing, functions at about a 4-year level. She has an exceptional vocabulary. After the age of ten she started to grow pubic hair. She has not said anything about it yet. I am extremely...
Puberty (female)

Pain (possible sources of)

My adult son still struggles with periods of pain following gall bladder surgery. Recently, he was diagnosed with Levator Ani Syndrome, which is intermittent rectal pain caused by spasm of the levator ani muscle (situated on the side of the pelvis). Some treatments...
Puberty (female)

Bone Age

Will my child’s bone age ever ‘catch-up’ to his chronological age? In general, individuals with CdLS have bone ages that lag behind their chronologic age. It should grow as they grow. It just means that it will take them longer to grow compared to...
Puberty (female)

Reflux (testing)

Our daughter has not had any obvious feeding problems since shortly after her birth. She is currently at approximately the 50th percentile on a typically developing growth chart for height and weight. As a baby, she held herself rigid at times, arching her back. We...
Puberty (female)

Recurrence Risk (with different partner)

If a person produces a child with CdLS, what is the recurrence rate of producing another child with CdLS with a different partner? Would it still be 1.5 %? It should be the same. A new partner would eliminate the likelihood of two recessive mutations (one silent...