Here are a few things that some families have reported but have not generally been included in official studies. They may or may not turn out to be features of MECP2 Duplication Syndrome, but they merit further attention to determine their status.
Pseudo-Prematurity (incomplete development for gestational age). Some parents have reported that their infants at birth were considered to be premature deliveries even though they were full-term pregnancies. Some have reported that there infants were premature but that the physicians overestimated the number of weeks premature based on physical findings, including Low birth weight, low muscle tone, lanugo (fine hair on body), undescended testicles, poorly developed ear cartilage, sluggish reflexes, difficulty nursing, minimal creasing on soles of feet and palms of hands, underdeveloped breast nodules. If confirmed, this is an unusual finding, and may provide a clue to early identification of the syndrome.
Low and Labile Basal Body Temperature A number of parents have reported that their child has a baseline body temperature several degrees below what is typically considered normal, For example, one individual’s basal temp remained around 34.7 C (94.5F) for years. Other families have mentioned that their child’s temperature can be quite variable. This information may be helpful for healthcare providers
Late Dentition Many parents report very late eruption of both first teeth and their adult replacements. Some have also noticed that enamel on teeth is thin.
Bluish Tinge in the Whites of the Eyes A slight blue or blue-gray tinge has been reported in the whites (sclera) of the eyes of older children and adults. This could indicate a thinning of the White layer allowing the some of the color of the layer below to be seen through the sclera. Bluish tinge of the sclera is often seen in the elderly and among people with osteogeneses imperfecta, and may be a clue to bone density and connective tissue issues.
Neurogenic Bladder? A number of parents report older children or adults with MECP2 Duplication Syndrome get older they store very large quantities of urine in their bladders and urinate large amounts but infrequently (for example, once or twice during 24 hours.
Feel free to use comments to indicate whether you have seen any of tehse things in your family member with MECP2 Duplication Syndrome or whetehr there have been other unusual findings that you have noticed.