Kleefstra Syndrome - Meetup In October in 2012

What is Kleefstra Syndrome

Last Updated on Thursday, 31 May 2012 12:44

Kleefstra syndrome is a rare genetic condition in which a tiny piece is missing from near the end of one of the body’s 46 chromosomes. The missing piece includes a gene called EHMT1. Its absence is believed to cause the major symptoms of the syndrome. The syndrome was officially recognised as Kleefstra syndrome in April 2010 but you may still see it referred to as any of the following:

• 9q34.3 deletion

This was the most common name before Kleefstra Syndrome was recognised, and in fact our original website address was www.9q34.org In April 2010 OMIMrecognised the term "Kleefstra syndrome" and in May 2010 our website adopted the new name.  

• 9qSTDS

Short for 9q Subtelomere Deletion Syndrome - It was suggested by a specialist in the field that this become the uniformed name. Some parents disliked this however, due to other meanings of the term STD.

• CHOMS

Short for Craniofacial characteristics, Hypotonia, Obesity, Microcephaly, Speech problems.  It was suggested to be the uniformed name by one of the specialists looking at the condition.

Other variations are:    

• 9q34.3 microdeletion

• 9q34.3 terminal deletion syndrome
• 
  

Diagnosis

What are the first signs that a baby or child has the disorder?

The first signs can be incredibly diverse. Out of a group of 14 babies, five seemed fine at birth but concern grew later about their development: they failed to track visually, to watch their mother while feeding or their rate of development was slow. One baby seemed to progress as expected until developing a type of seizure at three months; another repeatedly failed hearing tests.

In nine babies there were signs immediately after birth of something wrong, varying from a weak cry, feeding difficulties and unusual facial features (twice thought to suggest Down’s syndrome) to a small head, hernias in the groin and at the navel, a floppy larynx, heart problems, cataracts and seizures. Although a low muscle tone (floppiness) is usually characteristic of newborn babies with Kleefstra syndrome, this may not be obvious: in four babies, no floppiness was observed.

Diagnosis

Last Updated on Tuesday, 01 May 2012 12:56

What are the first signs that a baby or child has the disorder?

The first signs can be incredibly diverse. Out of a group of 14 babies, five seemed fine at birth but concern grew later about their development: they failed to track visually, to watch their mother while feeding or their rate of development was slow. One baby seemed to progress as expected until developing a type of seizure at three months; another repeatedly failed hearing tests.

In nine babies there were signs immediately after birth of something wrong, varying from a weak cry, feeding difficulties and unusual facial features (twice thought to suggest Down’s syndrome) to a small head, hernias in the groin and at the navel, a floppy larynx, heart problems, cataracts and seizures. Although a low muscle tone (floppiness) is usually characteristic of newborn babies with Kleefstra syndrome, this may not be obvious: in four babies, no floppiness was observed.