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Coffin-Siris syndrome 1
Description
Coffin-Siris Syndrome: A Rare Genetic Condition
Coffin-Siris syndrome (CSS) is a rare genetic disorder that affects multiple body systems, leading to various physical and developmental abnormalities.
- Physical Characteristics: Individuals with CSS often have distinctive facial features, including a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes [1][8].
- Developmental Delays: CSS is characterized by global developmental delays, which can range from mild to severe. This may include delayed milestones, intellectual disability, and learning disabilities [5][6].
- Physical Abnormalities: Other physical features associated with CSS include shortened pinky fingers or toes, sparse scalp hair, excessive body hair growth, and variably impaired intellectual development [9].
CSS is a rare condition, and its symptoms can vary widely among affected individuals. If you're looking for more information on this topic, I'd be happy to help!
Additional Characteristics
- intellectual disability
- distinctive facial features
- wide nose with flat nasal bridge
- wide mouth with thick lips
- thick eyebrows and eyelashes
- global developmental delays
- mild to severe delayed milestones
- learning disabilities
- shortened pinky fingers or toes
- sparse scalp hair
- excessive body hair growth
Signs and Symptoms
Common Signs and Symptoms of Coffin-Siris Syndrome
Coffin-Siris syndrome (CSS) is a genetic condition that affects various aspects of an individual's development. The signs and symptoms of CSS can vary in severity and may include:
- Intellectual Disability: Individuals with CSS often experience intellectual disability, which can range from mild to severe [1].
- Developmental Delays: People with CSS may exhibit delayed motor skills, such as walking or talking, and may have difficulty with cognitive development [2].
- Physical Characteristics:
- Coarse facial features, including a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes [3].
- Short stature and low muscle tone (hypotonia) [4].
- Abnormally loose skin folds on the hands and feet.
- Finger and Toe Abnormalities:
- Underdevelopment of fingers and toes, particularly the pinky finger or toenail hypoplasia/aplasia [5].
- Shortened pinky finger or absent distal phalanx [6].
It's essential to note that not everyone with CSS will exhibit all of these signs and symptoms. The severity and combination of features can vary significantly from person to person.
References: [1] Aug 30, 2021 - Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose ( ... [2] Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped 'pinky' toenails or ... [3] Jan 18, 2023 — Symptoms · coarse facial features · a thick lower lip · a wide mouth · increased bodily hair · feeding difficulties. [4] Aug 30, 2021 — Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose ( ... [5] Characteristic major features include mild to severe developmental or cognitive delay (in all patients), fifth finger nail/distal phalanx hypoplasia or aplasia ... [6] Some of the characteristics of CSS that Julia had include global developmental delays, delayed milestones, intellectual disability, a shortened pinky finger ...
Additional Symptoms
- Coarse facial features
- Feeding difficulties
- Developmental Delays
- Low muscle tone (hypotonia)
- Intellectual Disability
- Wide mouth
- Abnormally loose skin folds on the hands and feet
- Underdevelopment of fingers and toes
- Shortened pinky finger or absent distal phalanx
- Increased bodily hair
- Thick lower lip
- short stature
Diagnostic Tests
Diagnostic Tests for Coffin-Siris Syndrome
Coffin-Siris syndrome (CSS) can be diagnosed through a combination of clinical evaluation and genetic testing.
- Physical Examination: A healthcare provider may perform a physical examination to look for characteristic features such as short stature, low muscle tone (hypotonia), and abnormally loose skin [2].
- Genetic Testing: Molecular genetic testing of the CSS genes can confirm the diagnosis. The panel includes sequence and deletion/duplication analysis of all the listed genes [5].
- Imaging Studies: Imaging studies such as ultrasound tests may be used to diagnose Coffin-Siris syndrome prenatally or in infants [7, 8].
Diagnostic Accuracy
The diagnostic test for CSS is expected to detect causative variants in about 60% of patients with Coffin-Siris syndrome [9]. This means that while the test can confirm the diagnosis in many cases, it may not be able to identify all cases.
References
[1] Not provided (user's query) [2] Context #2 [5] Context #5 [7] Context #7 [8] Context #8 [9] Context #9
Additional Diagnostic Tests
- Physical Examination
- Imaging Studies
- Genetic Testing
Treatment
Based on the available information, it appears that there is no specific drug treatment for Coffin-Siris syndrome.
- According to search result [5], "Treatment is essentially supportive and symptomatic." This suggests that the primary approach to managing the condition is through non-pharmacological means.
- Search result [8] mentions that "Because of the variety of symptoms, treatment depends on the specific presentation in the individual." However, it does not specify any drug treatments for Coffin-Siris syndrome.
- Search result [9] states that "The treatment for Coffin-Siris syndrome depends on the symptoms a person develops." Again, this suggests that treatment is tailored to the individual's specific needs, but no specific drug treatments are mentioned.
However, there is some information about potential therapeutic approaches:
- Search result [7] mentions that "Acetate supplementation restores cognitive deficits caused by ARID1A haploinsufficiency in excitatory neurons." This suggests that acetate supplementation may have a beneficial effect on certain aspects of Coffin-Siris syndrome, but it is not clear if this would be considered a standard treatment.
In summary, while there are some potential therapeutic approaches being explored, there does not appear to be any established drug treatment for Coffin-Siris syndrome. Treatment is primarily supportive and symptomatic, with a focus on addressing the individual's specific needs.
References: [5] - "Management and treatment. Treatment is essentially supportive and symptomatic. Occupational, physical and speech therapy are recommended." [7] - "Acetate supplementation restores cognitive deficits caused by ARID1A haploinsufficiency in excitatory neurons." [8] - "Because of the variety of symptoms, treatment depends on the specific presentation in the individual." [9] - "The treatment for Coffin-Siris syndrome depends on the symptoms a person develops."
Recommended Medications
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Differential Diagnosis
Differential Diagnoses for Coffin-Siris Syndrome
Coffin-Siris syndrome (CSS) can be challenging to diagnose due to its variable presentation and overlap with other syndromes. The following conditions are considered differential diagnoses for CSS:
- Nicolaides-Baraitser syndrome: This rare genetic disorder is characterized by a range of symptoms, including developmental delays, intellectual disability, and distinctive facial features [3].
- Brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome: BOD syndrome is a rare condition that affects the development of limbs, fingers, and toes, leading to short stature, joint laxity, and other musculoskeletal abnormalities [10].
- DOOR syndrome: DOOR syndrome is a rare genetic disorder characterized by developmental delays, intellectual disability, and distinctive facial features, including a flat midface and low-set ears [3].
- Hyperphosphatasia-intellectual disability (HPID) syndrome: HPID syndrome is a rare condition that affects the development of bones and teeth, leading to high levels of alkaline phosphatase in the blood and intellectual disability [3].
These differential diagnoses are essential for healthcare professionals to consider when evaluating patients with suspected CSS. Accurate diagnosis requires a comprehensive medical history, physical examination, and genetic testing.
References:
[1] Context result 3 [2] Context result 9
Additional Differential Diagnoses
- Hyperphosphatasia-intellectual disability (HPID) syndrome
- N syndrome
- Nicolaides-Baraitser syndrome
- Cornelia de Lange syndrome 3
- autosomal recessive intellectual developmental disorder 72
- autosomal recessive intellectual developmental disorder 10/20
- autosomal recessive intellectual developmental disorder 34
- autosomal recessive intellectual developmental disorder 39
- autosomal recessive intellectual developmental disorder 44
- autosomal recessive intellectual developmental disorder 47
- autosomal recessive intellectual developmental disorder 48
- autosomal recessive intellectual developmental disorder 58
- autosomal recessive intellectual developmental disorder 68
- autosomal recessive intellectual developmental disorder 69
- autosomal recessive intellectual developmental disorder 75
- Pierpont syndrome
- Cornelia de Lange syndrome
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0070042
- core#notation
- DOID:0070042
- oboInOwl#hasDbXref
- MIM:135900
- IAO_0000115
- A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.
- oboInOwl#hasExactSynonym
- MRD12
- rdf-schema#label
- Coffin-Siris syndrome 1
- rdf-schema#subClassOf
- t345668
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1914
- owl#annotatedSource
- t345330
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