The rarest genetics to have Coffin Siris syndrome genetics, Hutchinson Gilford Progeria Syndrome genetics, Alkaptonuria genetics, Mitochondrial disorder genetics, Rett Syndrome genetics and Klinefelter Syndroem genetics.
A rare genetic syndrome is a syndrome that affects less than 200,000 people in the United States and can be caused by a change in a person's chromosomes or genes.
An example of a rare genetic syndrome is Coffin-Siris syndrome which is a condition that affects several body systems and can cause developmental disability, characteristic facial features and abnormalities of the fifth fingers or toes.
Most people with Coffin-Siris syndrome live relatively long lives and early treatment can improve the persons quality of life and it's not progressive so the symptoms don't tend to worse over time.
In severe cases children with Coffin-Siris syndrome have died from aspiration pneumonia and seizures but that is rare.
Coffin-Siris syndrome is hereditary but it's not usually inherited from a parent.
Coffin-Siris syndrome is an autosomal dominant pattern which means that one copy of an altered gene in each cell is enough to cause the disorder.
Most cases of Coffin-Siris syndrome are caused by new or de novo variants in the gene which likely occur during early embryonic development.
The proportion of cases of Coffin Siris syndrome caused by a de novo variant is close to 100 percent.
Fewer than 1 in 1,000,000 people are affected by Coffin-Siris syndrome.
There are only 200 reported cases of Coffin-Siris syndrome worldwide.
Coffin-Siris syndrome is rare and only affects around 200 reported cases of people worldwide being affected by Coffin-Siris syndrome.
However the exact prevalence of Coffin-Siris syndrome is not known because the disorder is often under recognized because the symptoms of Coffin-Siris syndrome can be minor and many people with Coffin-Siris syndrome may not have undergone any molecular tests or received medical attention.
Coffin-Siris syndrome is a rare genetic condition that causes a variable degrees of learning disabilities, developmental delays, distinct facial features and underdeveloped pinky toenails or fingernails.
The hallmark signs and symptoms of Coffin-Siris syndrome are developmental disability and abnormalities of the fifth finger or pinky fingers and toes and also characteristic facial features.
Another name for Coffin-Siris syndrome is fifth digit syndrome.
Coffin-Siris syndrome also has several other names which include.
Short 5th finger.
Hypoplastic/Small Little Finger.
Hypoplastic/Small 5th Finger.
Hypoplastic Phalanges of The Little Finger.
Fifth Finger Brachydactyly.
Mental retardation with hypoplastic fifth fingernails and toenails.
Short stature-onychodysplasia.
Coffin-Siris syndrome is not autism itself but it is associated with autism and can occur along with autism.
Coffin-Siris syndrome is a rare genetic disorder and also often co-occurs with attention-deficit hyperactivity disorder and autism spectrum disorder.
Most people affected by Coffin Siris Syndrome have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking.
Another feature of Coffin-Siris syndrome is the underdevelopment also known as (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails.
People that have Coffin-Siris syndrome typically have variable degree of developmental delay or intellectual disability, muscular hypotonia, dysmorphic facial features, sparse scalp hair, but otherwise hirsutism and fifth digit nail or distal phalanx hypoplasia or aplasia.
Another syndrome that is close to autism is Asperger's syndrome which is a form of autism spectrum disorder.
Asperger's syndrome is a developmental disorder and is related to autism and young people with Asperger's syndrome often have a hard time relating to others socially or socially interacting with others.
People with Asperger's syndrome also often have a narrow range of interests and repetitive behavior patterns.
The symptoms of Asperger syndrome include difficulty with social interactions and unusual behaviors such as rarely changing facial expression.
Not making eye contact when speaking to others.
Talking incessantly about a single topic and not noticing that others are not listening.
There's no cure for Asperger's syndrome, however, being one of the milder forms in the Autism Spectrum Disorders, with little language development difficulties and normal or high IQ, this disorder allows a child to live a normal or near normal life.
Other signs of Asperger's include.
Trouble taking turns during conversations.
Difficulty interpreting social cues, body language, tone of voice and facial expressions.
Struggles to empathize with or understand the perspective of others.
Difficulty staying on task and understanding or following directions.
Many people diagnosed with Asperger's syndrome and related conditions achieve success in their lives.
Other people with Asperger's syndrome may need some help in finding or keeping work, living arrangements and social relationships.
The 4 types of Asperger's Syndrome are Fixated, Disruptive, Approach and Avoidant.
Adults with Asperger's syndrome may have difficulties with communication and social interaction.
They may also find it hard to regulate their emotions or understand the emotions of others.