Coffin-Siris syndrome 2

Coffin-Siris Syndrome 2 Overview

Coffin-Siris syndrome 2 (CSS2) is a congenital malformation syndrome characterized by a range of clinical features, including developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and distal phalanges.

Key Features:

• Developmental delay and intellectual disability
• Coarse facial features
• Feeding difficulties
• Hypoplastic or absent fifth fingernails and distal phalanges

Additional Symptoms:

• Variable degrees of learning disability and developmental delays
• Distinctive facial features, including a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes.

Genetic Heterogeneity: CSS2 is caused by mutations in several genes, including ARID1A, ARID1B, SMARCA4, SMARCB1, DPF2, or SMARCE1. The genetic heterogeneity of CSS2 contributes to its clinical variability and complexity.

References:

• [3] - Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, ...
• [4] - Coffin-Siris syndrome 2 is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and distal phalanges.
• [10] - Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or ...

Characteristics of Coffin-Siris Syndrome

Coffin-Siris syndrome (CSS) is a rare genetic disorder that affects multiple body systems. The condition is characterized by several distinct features, including:

• Developmental Disability: Most individuals with CSS experience some level of developmental disability or intellectual disability [2].
• Physical Abnormalities: People with CSS often have physical abnormalities, such as:
  • Abnormalities of the fifth (pinky) fingers or toes [2]
  • Distinct facial features, which can include a coarse facial appearance [1]
  • Short stature and low muscle tone (hypotonia) [7]
• Facial Features: Individuals with CSS often have characteristic facial features, including a coarse facial appearance [1].
• Fingernail/Toenail Abnormalities: Some people with CSS may experience underdeveloped or missing fingernails or toenails on their pinky fingers or toes [4].

These symptoms can vary in severity and may be present at birth (congenital) or develop later in life. It's essential to note that each individual with CSS may exhibit a unique combination of these characteristics.

References: [1] - Description of Coffin-Siris syndrome [2] - Hallmarks of this condition include developmental disability, abnormalities of the fifth fingers or toes, and characteristic facial features. [4] - Summary of Coffin-Siris syndrome [7] - Other signs and symptoms that may occur in people with this condition

Diagnostic Tests for Coffin-Siris Syndrome

Coffin-Siris syndrome can be diagnosed through a combination of clinical evaluation, imaging tests, and molecular genetic testing.

• Clinical Evaluation: Doctors typically diagnose Coffin-Siris syndrome in infancy using a combination of physical examinations and imaging tests [10]. The diagnosis is generally based on the presence of major and at least one minor clinical sign, which can be confirmed by molecular genetic testing of the affected individual [2].
• Molecular Genetic Testing: This test is expected to detect causative variants in about 60% of patients with Coffin-Siris syndrome [5]. The test involves sequencing with CNV PGxome and can confirm the diagnosis.
• Imaging Tests: Imaging tests such as ultrasound may be used to prompt prenatal diagnosis of Coffin-Siris syndrome [8].
• Genetic Panel Testing: A genetic panel consisting of 22 genes associated with Coffin-Siris syndrome phenotypes is also available for diagnostic testing [7]. This test can help identify the underlying genetic cause of the condition.

It's worth noting that a clinical genetic test offered by Genetic Services Laboratory and Greenwood Genetic Center Diagnostic Laboratories may also be used to diagnose Coffin-Siris syndrome, among other conditions [1] and [6].

References:

[1] Clinical Genetic Test offered by Genetic Services Laboratory for conditions (7): Coffin-Siris syndrome 1; ADNP-related multiple congenital anomalies ...

[2] The diagnosis is generally based on the presence of major and at least one minor clinical sign and can be confirmed by molecular genetic testing of the ...

[5] Clinical Sensitivity - Sequencing with CNV PGxome. This test is expected to detect causative variants in about 60% of patients with Coffin-Siris syndrome (...

[6] Clinical Genetic Test offered by Greenwood Genetic Center Diagnostic Laboratories for conditions (22): Biotinidase deficiency; ADNP-related multiple ...

[7] This panel consists of 22 genes that have been associated with Coffin-Siris syndrome phenotypes. Features include intellectual disability and developmental ...

[8] Jan 8, 2024 — Step 2: Sample collection (blood or buccal swab) ... Prenatal diagnosis of Coffin-Siris syndrome may also be prompted through ultrasound tests.

[10] Jan 18, 2023 — Doctors typically diagnose Coffin-Siris syndrome in infancy, using a combination of physical examinations and imaging tests. Alternatively, ...

Unfortunately, there isn't much information available on specific drug treatments for Coffin-Siris Syndrome in the search results provided.

However, based on the context, it appears that treatment for Coffin-Siris Syndrome is often focused on managing symptoms and improving quality of life through various therapies such as occupational, physical, and speech therapy [8]. Surgical repair may also be considered for certain craniofacial abnormalities [8].

It's worth noting that there is no specific mention of drug treatments in the search results provided. However, it's possible that some medications may be used to manage related conditions or symptoms associated with Coffin-Siris Syndrome.

If you're looking for information on drug treatment options, I would recommend searching further or consulting a medical professional who can provide more detailed and accurate information.

However, based on the context, here are some general points about treatment of Coffin-Siris syndrome:

• Treatment often focuses on managing symptoms and improving quality of life [8]
• Occupational, physical, and speech therapy may be beneficial [2][8]
• Surgical repair may be considered for certain craniofacial abnormalities [8]

Please note that these points are based on the limited information available in the search results provided. If you have any further questions or would like me to search again, please let me know!

Differential Diagnoses for Coffin-Siris Syndrome

Coffin-Siris syndrome has several differential diagnoses, which are conditions that may present with similar symptoms and characteristics. Some of these include:

• Nicolaides-Baraitser syndrome: This is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and other physical abnormalities [3].
• Brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome: A rare condition that affects the development of limbs, fingers, and toes, often accompanied by intellectual disability and other systemic anomalies [3].
• DOOR syndrome: A genetic disorder characterized by developmental delays, ophthalmologic abnormalities, and hearing impairment, which may be similar to Coffin-Siris syndrome in some cases [2].
• Hyperphosphatasia-intellectual disability (HPID) syndrome: A rare condition that affects the development of bones and teeth, often accompanied by intellectual disability and other systemic anomalies [3].

These differential diagnoses are important for healthcare professionals to consider when diagnosing Coffin-Siris syndrome, as they may present with similar symptoms and characteristics. However, it's worth noting that each of these conditions has its unique features and diagnostic criteria.

References: [1] Context result 3 [2] Context result 4 [3] Context result 5