3P25 Deletion Syndrome.

3P25 Deletion Syndrome. - Today we welcomed back a two year old little girl for her second
assessment. She has an exceptionally rare genetic disorder known as 3p25 deletion syndrome. This is so rare that since the first person was reported in the medical literature in 1978, only around 50 people with a 3p25 deletion involving no other chromosome(s) have been described in the medical literature. Today after 10 months on the Snowdrop programme she had made some very significant developmental gains. Her visual ability has moved from the 4 month level to the 12 month level. Her auditory development has moved from the 8 month level to the 18 month level. Gross motor skills have improved from not even sitting, to standing against furniture, - she is well on the way to developing a standing balance. Language has moved from the 7 month level of babbling, to the 14 month level of possessing two words of speech, - 'dada' and 'go.' Socialisation has moved from the 8 month level to the 18 month level. It just shows that genetic expression can be fought against. Well done to mum and dad who have brought about this dramatic change!

3P25 Deletion Syndrome.

3P25 syndrome is a very rare genetic disorder affecting something like 1 in 500,000 live births and the problems it can cause for the child can vary widely, creating a spectrum.  Therefore each person with a 3p25 deletion is unique and will have different developmental and medical concerns. No one person will have all of the features listed her – even if their chromosome deletion appears to be exactly the same. However, a number of common features have emerged:

• Low birth weight, most children also grow slowly and remain short. 
• Feeding problems
• Delay in reaching baby ‘milestones’ and later developmental delay 
• Hypotonia - floppiness 
• Need for support with learning 
• Ptosis – an inability to fully raise the upper eyelid 
• Unusual facial features, such as wide-spaced eyes, low set ears, and a long groove between the nose and upper lip 
• Small head (microcephaly)
• The head is sometimes an unusual shape 
• Autism and challenging behaviour 
• Many children have a cleft palate or other palate anomalies 
• Extra fingers and/ or toes 
• Dimple near the base of the spine 
• Bowel or intestinal problems 
• Seizures 
• Hearing impairment, temporary in some children 
• Kidney problems 
• Heart conditions 
• Pits/ tiny holes in the cheek just in front of the ears 
• Scoliosis or other mild skeletal problems 

This afternoon a new family with an absolutely beautiful 14 month old little girl joined us on the Snowdrop programme. She has 3p25 deletion syndrome, but mum and dad have already worked so hard with her and done really well. Let's hope we can add even more to their achievements. She is such a cutie!