1

Which are the symptoms of Ring Chromosome 14 Syndrome?

See the worst symptoms of affected by Ring Chromosome 14 Syndrome here

Ring Chromosome 14 Syndrome symptoms

Symptoms of Ring Chromosome 14 Syndrome


Ring Chromosome 14 Syndrome, also known as r(14) syndrome, is a rare genetic disorder caused by a ring-shaped chromosome 14. This condition can lead to a variety of physical, cognitive, and developmental symptoms. It is important to note that the severity and specific symptoms can vary widely among individuals affected by this syndrome.



Seizures: One of the most common and prominent features of Ring Chromosome 14 Syndrome is the presence of seizures. These seizures often begin in early childhood and can be difficult to control with medication. They may manifest as different types, including generalized tonic-clonic seizures, absence seizures, or focal seizures.



Developmental Delay: Individuals with Ring Chromosome 14 Syndrome typically experience developmental delays, which can affect various aspects of their growth and abilities. This may include delays in reaching developmental milestones such as sitting, crawling, walking, and talking. Intellectual disability is also commonly observed.



Speech and Language Impairments: Many individuals with this syndrome have difficulties with speech and language development. They may have limited vocabulary, struggle with articulation, and exhibit challenges in understanding and expressing language.



Behavioral Issues: Behavioral problems are often seen in individuals with Ring Chromosome 14 Syndrome. These can include hyperactivity, attention deficit hyperactivity disorder (ADHD), impulsivity, aggression, self-injurious behaviors, and autistic-like behaviors. However, it is important to note that not all individuals with this syndrome exhibit these behavioral issues.



Distinct Facial Features: Some individuals with Ring Chromosome 14 Syndrome may have distinctive facial features, although these can be subtle and vary widely. These features may include a prominent forehead, deep-set eyes, a broad nasal bridge, a thin upper lip, and a small chin.



Growth and Feeding Difficulties: Growth may be affected in individuals with this syndrome, leading to short stature or failure to thrive. Feeding difficulties, such as problems with swallowing or poor appetite, may also be present.



Motor Impairments: Motor coordination and control may be impaired in individuals with Ring Chromosome 14 Syndrome. This can result in difficulties with fine motor skills, such as writing, drawing, or manipulating objects, as well as gross motor skills, such as walking or running.



Other Possible Features: While not universally present, some individuals with Ring Chromosome 14 Syndrome may exhibit additional features. These can include vision problems, hearing loss, heart defects, skeletal abnormalities, kidney abnormalities, and gastrointestinal issues.



It is important to note that the symptoms and severity of Ring Chromosome 14 Syndrome can vary greatly among affected individuals. Some individuals may have milder symptoms and lead relatively independent lives, while others may require significant support and care throughout their lives.


Diseasemaps
1 answer

Ring Chromosome 14 Syndrome symptoms

Ring Chromosome 14 Syndrome life expectancy

What is the life expectancy of someone with Ring Chromosome 14 Syndrome?

5 answers
Celebrities with Ring Chromosome 14 Syndrome

Celebrities with Ring Chromosome 14 Syndrome

2 answers
Is Ring Chromosome 14 Syndrome hereditary?

Is Ring Chromosome 14 Syndrome hereditary?

3 answers
Is Ring Chromosome 14 Syndrome contagious?

Is Ring Chromosome 14 Syndrome contagious?

5 answers
Natural treatment of Ring Chromosome 14 Syndrome

Is there any natural treatment for Ring Chromosome 14 Syndrome?

1 answer
ICD9 and ICD10 codes of Ring Chromosome 14 Syndrome

ICD10 code of Ring Chromosome 14 Syndrome and ICD9 code

3 answers
Living with Ring Chromosome 14 Syndrome

Living with Ring Chromosome 14 Syndrome. How to live with Ring Chromosome 1...

1 answer
Ring Chromosome 14 Syndrome diet

Ring Chromosome 14 Syndrome diet. Is there a diet which improves the qualit...

1 answer

World map of Ring Chromosome 14 Syndrome

Find people with Ring Chromosome 14 Syndrome through the map. Connect with them and share experiences. Join the Ring Chromosome 14 Syndrome community.

Stories of Ring Chromosome 14 Syndrome

RING CHROMOSOME 14 SYNDROME STORIES
Ring Chromosome 14 Syndrome stories
As Joseph's sister I write this story on his behalf; Joseph Worley was born full term on 25th May, 1960 following an uncomplicated pregnancy. Tom and Sonia were the parents of Brian and Clifford and Sonia had delivered her second baby, Mary at 7 m...
Ring Chromosome 14 Syndrome stories
0-1years (1992-1993) On January 21, 1992, Brooke Anne Costilla joined us in this world. She was born 6 weeks premature, weighing 5lbs. 6oz. Other than a couple of days in the oxygen tent and 3 days under a biliruben light, she seemed like a norm...
Ring Chromosome 14 Syndrome stories
My daughter has the mosaic ring 14. Having trouble finding much information on the mosaic or families who have experienced it.

Tell your story and help others

Tell my story

Ring Chromosome 14 Syndrome forum

RING CHROMOSOME 14 SYNDROME FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map