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Coffin-Siris syndrome 6
Description
Coffin-Siris Syndrome 6 (CSS6) Description
Coffin-Siris syndrome-6 (CSS6) is a rare genetic disorder characterized by several distinct features. According to various sources [4, 5, 6], CSS6 is marked by:
- Short stature: Individuals with CSS6 often have short stature compared to their peers.
- Sparse hair: They may experience sparse or thinning hair on the scalp.
- Mildly to severely impaired intellectual development: Cognitive delays and impairments are common in individuals with CSS6, affecting their learning and developmental abilities.
- Coarse facial features: The condition is also associated with coarse or distinctive facial features, which can vary from person to person.
These characteristics may be present at birth or become more pronounced as the individual grows older. It's essential to note that each case of Coffin-Siris syndrome-6 can exhibit unique symptoms and severity levels [7].
References: [4] - CSS6 is characterized by short stature, sparse hair, mildly to severely impaired intellectual development, coarse facial features, and variable behavioral anomalies. [5] - For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). Clinical Features. [6] - Coffin-Siris syndrome-6 (CSS6) is characterized by short stature, sparse hair, mildly to severely impaired intellectual development, coarse facial features, and variable behavioral anomalies. [7] - A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features.
Additional Characteristics
- Coarse facial features
- Short stature
- Sparse hair
- Mildly to severely impaired intellectual development
Signs and Symptoms
Common Signs and Symptoms of Coffin-Siris Syndrome 6 (CSS6)
Coffin-Siris syndrome 6 (CSS6) is a rare genetic disorder that affects various aspects of an individual's development. The following are some common signs and symptoms associated with CSS6:
- Short stature: Individuals with CSS6 often experience short stature, which can be a result of delayed growth or other underlying health issues [1].
- Sparse hair: Many people with CSS6 have sparse or thinning hair, which can be a distinctive feature of the condition [9].
- Mildly to severely impaired intellectual development: CSS6 is characterized by varying degrees of cognitive impairment, ranging from mild to severe developmental delays [3], [6].
- Coarse facial features: Individuals with CSS6 often have coarse or rough facial features, which can be a result of abnormalities in the craniofacial area [2].
- Shortened pinky finger (hypoplasia or aplasia): A common feature of CSS6 is the underdevelopment or absence of the distal phalanx of the fifth finger [3], [8].
Additional Symptoms
Other signs and symptoms that may occur in people with CSS6 include:
- Global developmental delays: Individuals with CSS6 often experience delayed milestones, such as walking, talking, or other developmental achievements [8].
- Low muscle tone (hypotonia): Some people with CSS6 may have low muscle tone, which can affect their overall physical development and coordination [1], [7].
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] The disorder may be characterized by abnormalities of the head and facial (craniofacial) area, resulting in a coarse facial appearance. [3] Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped 'pinky' toenails or ... [6] Characteristic major features include mild to severe developmental or cognitive delay (in all patients), fifth finger nail/distal phalanx hypoplasia or aplasia ... [7] 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 ( ... [8] Some of the characteristics of CSS that Julia had include global developmental delays, delayed milestones, intellectual disability, a shortened pinky finger ... [9] Coffin-Siris syndrome-6 (CSS6) is characterized by short stature, sparse hair, mildly to severely impaired intellectual development, coarse facial features,
Additional Symptoms
- Coarse facial features
- Sparse hair
- Low muscle tone (hypotonia)
- Global developmental delays
- Mildly to severely impaired intellectual development
- Shortened pinky finger (hypoplasia or aplasia)
- short stature
Diagnostic Tests
Diagnostic Tests for Coffin-Siris Syndrome
Coffin-Siris syndrome (CSS) can be diagnosed through a combination of clinical evaluation and molecular genetic testing.
- Clinical Evaluation: A physical examination by a healthcare professional is essential to identify the characteristic features of CSS, such as abnormalities of the head, face, and body. The diagnosis is generally based on the presence of major and at least one minor clinical sign [4].
- Molecular Genetic Testing: This test involves analyzing the genes associated with CSS, including sequence and deletion/duplication analysis of all listed genes [5]. According to a study published in 2021, this test is expected to detect causative variants in about 60% of patients with Coffin-Siris syndrome [8].
- Prenatal Diagnosis: Prenatal diagnosis of CSS may also be prompted through ultrasound tests [6].
It's essential to note that the diagnosis and management of CSS are highly individualized based on a person's particular symptoms. A healthcare professional will work with you to develop a personalized plan for your specific needs.
References: [4] - The panel includes sequence and deletion/duplication analysis of all the listed genes. [5] - This test is expected to detect causative variants in about 60% of patients with Coffin-Siris syndrome (Schrier Vergano et al. 2021. PubMed ID: 23556151). [6] - Jan 8, 2024 — Prenatal diagnosis of Coffin-Siris syndrome may also be prompted through ultrasound tests. [8] - This test is expected to detect causative variants in about 60% of patients with Coffin-Siris syndrome (Schrier Vergano et al. 2021. PubMed ID: 23556151).
Additional Diagnostic Tests
- Clinical Evaluation
- Molecular Genetic Testing
- Prenatal Diagnosis
Treatment
Unfortunately, there isn't much information available on drug treatment for Coffin-Siris Syndrome in the search results provided.
However, based on the context [6], it seems that acetate supplementation has been shown to restore cognitive deficits caused by ARID1A haploinsufficiency in excitatory neurons. This is a specific aspect of the condition and its potential treatment.
It's worth noting that the overall management and treatment of Coffin-Siris Syndrome tends to be supportive and symptomatic, with a focus on occupational, physical, and speech therapy [5]. Surgical repair may also be necessary for certain craniofacial abnormalities [9].
While there is some mention of medical science and emerging developments in the treatment of Coffin-Siris Syndrome [10], it appears that specific drug treatments are not well-represented in these search results.
If you're looking for more information on this topic, I'd be happy to try searching again or help with another question!
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnoses for Coffin-Siris Syndrome
Coffin-Siris syndrome (CSS) can be challenging to diagnose, and it's essential to consider other conditions that may present with similar symptoms. The differential diagnoses for CSS include:
- Nicolaides-Baraitser syndrome: This is a rare genetic disorder characterized by facial abnormalities, developmental delays, and intellectual disability [4].
- Brachymorphism-onychodysplasia-dysphalangism (BOD): A condition that affects the development of limbs, fingers, and toes, leading to short stature, joint deformities, and nail abnormalities [4].
- DOOR syndrome: A rare genetic disorder characterized by developmental delays, intellectual disability, and distinctive facial features [4].
- Hyperphosphatasia-intellectual disability (HPID): A condition that affects the development of bones and teeth, leading to intellectual disability and characteristic facial features [4].
It's crucial for healthcare professionals to consider these differential diagnoses when evaluating patients with suspected CSS. Accurate diagnosis can help guide treatment and management plans.
References: [4] - Context result 4
Additional Differential Diagnoses
- Brachymorphism-onychodysplasia-dysphalangism (BOD)
- Hyperphosphatasia-intellectual disability (HPID)
- N syndrome
- Nicolaides-Baraitser syndrome
- autosomal dominant intellectual developmental disorder 44
- Cornelia de Lange syndrome 1
- Cornelia de Lange syndrome 4
- autosomal recessive intellectual developmental disorder 9/26
- autosomal recessive intellectual developmental disorder 16
- autosomal recessive intellectual developmental disorder 38
- autosomal recessive intellectual developmental disorder 73
- DOORS syndrome
- Cornelia de Lange syndrome 6
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0080297
- core#notation
- DOID:0080297
- oboInOwl#hasDbXref
- MIM:617808
- rdf-schema#label
- Coffin-Siris syndrome 6
- IAO_0000115
- A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12.
- rdf-schema#subClassOf
- t353169
- 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_2667
- owl#annotatedSource
- t353656
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.