What is 3-M Syndrome?
3 - M Syndrome is a very uncommon inborn pathologic precondition which is characterized by extremely low birth weight unit of the infant , extremely curt height , craniofacial abnormalities , and sure skeletal abnormalities .
A tyke with 3 - M Syndrome will have an abnormally farsighted and narrow-minded question and head-on bossing with an extremely prominent forehead . He or she will have a triangular shaped face and abnormally large ears .
to boot , infants with 3 - M Syndrome will also have unnatural tooth where they will be push abnormally and the upper and scurvy teeth may not fill normally .
Infants with 3 - M Syndrome will also have sure skeletal freakishness with extremely thin bones peculiarly of the sleeve and peg , abnormal bones of the spinal column .
The extent of the physical features are passing variable and may roam from restrained to severe and differ from somebody to someone in most of the cases of 3 - M Syndrome .
This status follows an autosomal recessive trait mean that two copy of the incorrect gene with one copy from each parent are required for the child to develop 3 - M Syndrome .
What Are The Causes of 3-M Syndrome?
As express , 3 - M Syndrome stick to an autosomal recessionary trait and the defective factor is inherited from both the parents . The genes believed to be responsible for 3 - M Syndrome are the CUL7 , OBSL1 , and CCDC8 genes . Abnormality in any of these three genes may lead in growing of 3 - M Syndrome .
Some studies have suggested that there are other genes also creditworthy for the development of this condition and hence investigator believe that not all the patients will have mutation in these three genes if they have 3 - M Syndrome .
What Are The Symptoms of 3-M Syndrome?
In majority of the cases , children with 3 - M Syndrome will be extremely short in height . They will have an abnormally low birth weighting even though they may not be preterm baby .
to boot , infants with 3 - M Syndrome will have abnormally tenacious and minute head as a result of premature block of the fibrous joints between the finger cymbals in the skull . Frontal bossing is also one of the presenting feature of 3 - M Syndrome along with a triangular shaped face .
Large curing ears , widely spread lips , and the upper and lower tooth which do not fulfil together are some of the other feature of 3 - M Syndrome . In addition , infants with 3 - M Syndrome will have abnormally short neck and wide shoulders . Scapular winging is also one of the classical presenting features of 3 - M Syndrome .
How is 3-M Syndrome Diagnosed?
In some display case if an ultrasound is conducted prenatally , some of the feature of speech of 3 - M Syndrome such as emergence slowness may be seeable and the doctor may be able to detect that the child to be born has 3 - M Syndrome .
In majority of the display case , 3 - M Syndrome is diagnosed briefly after the birth of the child by looking at the passing abject birth weight along with the characteristic features of long and minute promontory and broad shoulders .
A thorough clinical evaluation may also be performed to check for any abnormalities that are specific for a precondition like 3 - M Syndrome . Advanced radiological studies in the shape of CT and MRI scan of the brain and other lively structure may clearly show abnormalities within the skull ensue in abnormally farsighted and narrow school principal which are classic findings for 3 - M Syndrome .
to boot , genetic testing may be done which will clear show mutation in at least one of the three genes which are the CUL7 , OBSL1 or CCDC8 which will affirm the diagnosis of 3 - M Syndrome .
How is 3-M Syndrome Treated?
The mainstay of treatment for 3 - M Syndrome is purely supportive and diagnostic . This ask a multidisciplinary movement from a team of specializer to let in pediatricians , neurologists , brain surgeon , and orthopaedist to evaluate and articulate a discussion programme best suited for the patient . Surgery may be done to even out some of the skeletal and craniofacial abnormalities . unwritten surgery may be required to correct the deformity of the tooth associated with 3 - M Syndrome .
