What is Rubinstein-Taybi Syndrome?
Rubinstein - Taybi syndrome is an super uncommon genetic pathologic condition which is characterize by abnormalities in various organs systems of the body .
The main characteristic features of Rubinstein - Taybi syndrome are delays in development of a nipper , intellectual handicap , failure to thrive , and unnatural facial features to include eyes which are cant over downwards , abnormally tenacious eyelashes , and a grin which looks more like a grimace . There may also be freakishness in the thumb and finger of a nipper with Rubinstein - Taybi syndrome . Dysphagia is yet another common feature of Rubinstein - Taybi syndrome .
A new gene mutation is the main cause for the development of this condition and there is no wrong gene that is inherited from wither parent for the development of Rubinstein - Taybi syndrome . This type of gene mutation is call de novo mutation .
The discussion for Rubinstein - Taybi syndrome is basically supportive and requires a multidisciplinary approach as many organ systems are involved in this precondition . Special teaching is also a essential as a result of increment delays and intellectual abnormalities . Additionally , cardiac , pneumonic , GI , and dental specialists are also required for treatment of a child with Rubinstein - Taybi Syndrome .
What are the Causes of Rubinstein-Taybi Syndrome?
As tell , the cause for development of Rubinstein - Taybi Syndrome is new mutation of the gene CREBBP . This gene mutates in a de novo fashion and is not inherit from either parent but the chances of an someone with his term having an materialisation with Rubinstein - Taybi syndrome is about 50 % .
In such case it take after an autosomal predominant radiation pattern of inheritance signify that one written matter of the faulty factor from the parent is secure enough for the offspring to modernize Rubinstein - Taybi syndrome .
What are the Symptoms of Rubinstein-Taybi Syndrome?
Since multiple organ scheme are involved in Rubinstein - Taybi syndrome thus the symptom are different for unlike reed organ systems of the body . Generally , an individual with Rubinstein - Taybi syndrome will have intellectual disability , growing and developmental delays , problems with spoken language and communication , abnormally broad finger and toe , abnormalities of the heading and face .
Additionally , there are also abnormalcy of the GI organisation with eating difficulty . Additionally , the bones of the thumb and toes may be malaligned in person with Rubinstein - Taybi syndrome . When we founder down the symptoms into the respective harmonium systems then the symptom of Rubinstein - Taybi syndrome are :
ontogenesis : In child with Rubinstein - Taybi syndrome , the height and weight of the child will be much below the normal percentile . The head circumference of the tiddler will also be abnormally down . These tiddler as they grow fail to accomplish or have delays in reaching their milestones .
bankruptcy to prosper is common for tiddler with Rubinstein - Taybi syndrome . system of weights gain may be a problem initially in the starting phase of this condition but as the child grow he or she will have more weight than their height make them super obese .
Feeding difficulties is also see in small fry with Rubinstein - Taybi syndrome in the form of dysphagia . Children with Rubinstein - Taybi syndrome also have severe psychomotor retardation .
Such children may also find it difficult to socialize with their peers as they have profound difficulty in communication as a result of Rubinstein - Taybi syndrome . They may also have abnormal muscular tissue tone , unsteady gait , and in some grammatical case seizures as well .
Physical Characteristics : The physical characteristic seen in child with Rubinstein - Taybi Syndrome include a beak form nose , a grimacing cheek . child with Rubinstein - Taybi syndrome also tend to have an abnormally little head . The upper jaw of the tike may also be developing and the low jaw will be abnormally small .
Eyes : There are also certain optical abnormalities connect with Rubinstein - Taybi Syndrome . Such shaver will run to have strabismus , ptosis , and epicanthal folds .
Musculoskeletal deformity : minor with Rubinstein - Taybi syndrome tend to grow scoliosis as they grow as well as kyphosis . There may also be abnormalities of the vertebra and the pelvis . These children when they grow tend to be prone to frequent dislocations of kneecap .
Genitourinary parcel : abnormality of the genitourinary tract are also one of the features of Rubinstein - Taybi Syndrome . Males with this disorder run to have undescended ball . They may also have an extra fold of tegument at the base of the penis .
Some children also exhibit hypospadias in which the urinary opening is malpositioned . Renal abnormalities are also quite unwashed in children with Rubinstein - Taybi syndrome .
The kid may have a malfunctioning kidney or in some case developing or absent kidney which may guide to recurrent urinary piece of ground infections , kidney Isidor Feinstein Stone , and abnormal accumulation of urine in the kidneys .
Cardiac : There are also sealed cardiac defect associated with children with Rubinstein - Taybi Syndrome . Pulmonary stenosis , letters patent ductus arteriosus and abnormal heart murmurs are some of the coarse conditions associated with a child with Rubinstein - Taybi syndrome . Ventral septal defects and atrial septal defects are also common in children with Rubinstein - Taybi Syndrome .
How is Rubinstein-Taybi Syndrome Diagnosed?
Rubinstein - Taybi Syndrome can be diagnosed by the physical feature that can be seen as soon as the child is born with characteristic down slanting eyes , pull a face smile , and underdeveloped jaws .
Radiological studies will also be direct in the form of x - ray of light studies to look at the position of the pearl . A genetical testing will then be conducted which will clearly show a variation in the CREBBP gene which will reassert the diagnosis of Rubinstein - Taybi Syndrome .
How is Rubinstein-Taybi Syndrome Treated?
The treatment of Rubinstein - Taybi Syndrome is purely diagnostic . The treatment requires a multidisciplinary approach shot with specialiser from multiple specialties coordinating and give voice a treatment program intimately suited for the patient .
These will include baby doctor , cardiologist , orthopedists , audiologists , special education specialists , nephrologists and the like . The growth pattern of the child should also be monitored closely . Frequent ocular examination need also be done to jibe the status of the centre and correct the abnormality if any are present .
The child should be monitored closely for any cardiac , respiratory , and/or renal freakishness and treated as appropriate with the several specialist . The wasted abnormality associated with Rubinstein - Taybi syndrome can be process with operative intercession .
The respiratory and feeding abnormalities will ask to be carefully monitor and treated with appropriate intervention . For speech and oral communication difficulties particular education will be postulate so that the patient role is made independent enough to put his or her intellection across and is able to address and communicate . Genetic counseling is super beneficial for families with phallus who have a phallus with Rubinstein - Taybi Syndrome .
