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Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
The following is a list of symptoms that have been associated with Roberts syndrome:
- Bilateral Symmetric Tetraphocomelia- a birth defect in which the hands and feet are attached to shortened arms and legs
- Prenatal Growth Retardation
- Hypomelia (Hypoplasia)- the incomplete development of a tissue or organ; less drastic than aplasia, which is no development at all
- Oligodactyly- fewer than normal number of fingers or toes
- Thumb Aplasia- the absence of a thumb
- Syndactyly- condition in which two or more fingers (or toes) are joined together; the joining can involve the bones or just the skin between the fingers
- Clinodactyly- curving of the fifth finger (little finger) towards the fourth finger (ring finger) due to the underdevelopment of the middle bone in the fifth finger
- Elbow/Knee Flexion Contractures- an inability to fully straighten the arm or leg
- Cleft Lip- the presence of one or two vertical fissures in the upper lip; can be on one side (unilateral) or on both sides (bilateral)
- Cleft Palate- opening in the roof of the mouth
- Premaxillary Protrusion- upper part of the mouth sticks out farther than the lower part of the mouth
- Micrognathia- small chin
- Microbrachycephaly- smaller than normal head size
- Malar Hypoplasia- underdevelopment of the cheek bones
- Downslanting Palpebral Fissures- the outer corners of the eyes point downwards
- Ocular Hypertelorism- unusually wide-set eyes
- Exophthalmos- a protruding eyeball
- Corneal Clouding- clouding of the front-most part of the eye
- Hypoplastic Nasal Alae- narrowing of the nostrils that can decrease the width of the nasal base
- Beaked Nose- a nose with a prominent bridge that gives it the appearance of being curved
- Ear Malformations
- Intellectual disability
- Encephalocele (only in severe cases)- rare defect of the neural tube characterized by sac-like protrusions of the brain
Mortality is high among those severely affected by Roberts syndrome; however, mildly affected individuals may survive to adulthood
Little is known about the natural history of Roberts syndrome due to its wide clinical variability. The prognosis of the disease depends on the malformations, as the severity of the malformations correlates with survival. The cause of death for most fatalities of Roberts syndrome have not been reported; however, five deaths were reportedly due to infection.
The following are observations that have been made in individuals with cytogenetic findings of PCS/HR or ESCO2 mutations:
- The symptom of prenatal growth retardation is the most common finding and can be moderate to severe. Postnatal growth retardation can also be moderate to severe and correlates with the degree of severity of limb and craniofacial malformations.
- In limb malformations, the upper limbs are typically more severely affected than the lower limbs. There have been many cases of only upper limb malformation.
- In hand malformations, the thumb is most often affected, followed by the fifth finger (the little finger). In severe cases, the patient may only have three fingers and in rare cases only one.
- In craniofacial malformations, mildly affected individuals will have no abnormalities of the palate. The most severely affected will have a fronto-ethmoid-nasal-maxillary encephalocele.
- The severity of limb malformations and craniofacial malformations is correlated.
- Other abnormalities can occur in different parts of the body, including:
- Heart- atrial septal defects, ventricular septal defects, patent ductus arteriosus
- Kidneys- polycystic kidney, horseshoe kidney
- Male Genitals- enlarged penis, cryptorchidism
- Female Genitals- enlarged clitoris
- Hair- sparse, silvery-blonde scalp hair
- Cranial Nerve Paralysis, Moyamoya disease, Stroke, Intellectual disability
Psychological conditions, which are present in about half of people with PCS, may include irritability, anxiety, depression, and a change in personality. Other emotional and behavioral symptoms include restlessness, aggression, and mood swings. Some common symptoms, such as apathy, insomnia, irritability, or lack of motivation, may result from other co-occurring conditions, such as depression.
A common condition associated with PCS is headache. While most people have headaches of the same type they experienced before the injury, people diagnosed with PCS often report more frequent or longer-lasting headaches. Between 30% and 90% of people treated for PCS report having more frequent headaches and between 8% and 32% still report them a year after the injury.
Dizziness is another common symptom reported in about half of people diagnosed with PCS and is still present in up to a quarter of them a year after the injury. Older people are at especially high risk for dizziness, which can contribute to subsequent injuries and higher rates of mortality due to falls.
About 10% of people with PCS develop sensitivity to light or noise, about 5% experience a decreased sense of taste or smell, and about 14% report blurred vision. People may also have double vision or ringing in the ears, also called tinnitus. PCS may cause insomnia, fatigue, or other problems with sleep.
Biliary microlithiasis refers to the creation of small gallstones less than 3mm in diameter in the biliary duct or gallbladder.
It has been suggested as a cause of postcholecystectomy syndrome, or PCS, the symptoms of which include:
- Upset stomach, nausea, and vomiting.
- Gas, bloating, and diarrhea.
- Persistent pain in the upper right abdomen.
Symptoms of CTE, which occur in four stages, generally appear 8 to 10 years after an athlete experiences repetitive mild traumatic brain injury.
First-stage symptoms include attention deficit hyperactivity disorder as well as confusion, disorientation, dizziness, and headaches. Second-stage symptoms include memory loss, social instability, impulsive behavior, and poor judgment. Third and fourth stages include progressive dementia, movement disorders, hypomimia, speech impediments, sensory processing disorder, tremors, vertigo, deafness, depression and suicidality.
Additional symptoms include dysarthria, dysphagia, cognitive disorder such as amnesia, and ocular abnormalities, such as ptosis.
The condition manifests as dementia, or declining mental ability, problems with memory, dizzy spells or lack of balance to the point of not being able to walk under one's own power for a short time and/or Parkinsonism, or tremors and lack of coordination. It can also cause speech problems and an unsteady gait. Patients with DP may be prone to inappropriate or explosive behavior and may display pathological jealousy or paranoia.
Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease found in people who have had multiple head injuries. Symptoms may include behavioral problems, mood problems, and problems with thinking. This typically does not begin until years after the injuries. It often gets worse over time and can result in dementia. It is unclear if the risk of suicide is altered.
Most documented cases have occurred in athletes involved in contact sports such as football, wrestling, ice hockey, and soccer. Other risk factors include being in the military, prior domestic violence, and repeated banging of the head. The exact amount of trauma required for the condition to occur is unknown. Definitive diagnosis can only occur at autopsy. It is a form of tauopathy.
As of 2017 there is no specific treatment. Rates of disease have been found to be about 30% among those with a history of multiple head injuries. Population rates, however, are unclear. Research into brain damage as a result of repeated head injuries began in the 1920s, at which time the condition was known as "punch drunk". Changing the rules in some sports has been discussed as a means of prevention.
Computer addiction can be described as the excessive or compulsive use of the computer which persists despite serious negative consequences for personal, social, or occupational function. Another clear conceptualization is made by Block, who stated that "Conceptually, the diagnosis is a compulsive-impulsive spectrum disorder that involves online and/or offline computer usage and consists of at least three subtypes: excessive gaming, sexual preoccupations, and e-mail/text messaging". While it was expected that this new type of addiction would find a place under the compulsive disorders in the DSM-5, the current edition of the "Diagnostic and Statistical Manual of Mental Disorders", it is still counted as an unofficial disorder. The concept of computer addiction is broadly divided into two types, namely offline computer addiction and online computer addiction. The term offline computer addiction is normally used when speaking about excessive gaming behavior, which can be practiced both offline and online. Online computer addiction, also known as Internet addiction, gets more attention in general from scientific research than offline computer addiction, mainly because most cases of computer addiction are related to the excessive use of the Internet.
Although addiction is usually used to describe dependence on substances, addiction can also be used to describe pathological Internet use. Experts on Internet addiction have described this syndrome as an individual being intensely working on the Internet, prolonged use of the Internet, uncontrollable use of the Internet, unable to use the Internet with efficient time, not being interested in the outside world, not spending time with people from the outside world, and an increase in their loneliness and dejection. However, simply working long hours on the computer does not necessarily mean someone is addicted.
Excessive computer use may result in, or occur with:
- Lack of face to face social interaction
- Computer vision syndrome