Coffin-Siris syndrome 8

Coffin-Siris Syndrome (CSS) - Key Features

Coffin-Siris syndrome, also known as CSS, is a rare genetic disorder that affects various parts of the body. The condition is characterized by several distinct features, including:

• Global developmental delay: Individuals with CSS often experience significant delays in reaching developmental milestones, such as sitting, walking, and talking.
• Intellectual disability: Many people with CSS have varying degrees of intellectual disability, which can range from mild to severe.
• Shortened fifth digits: A hallmark feature of CSS is the presence of shortened or missing fifth fingers (also known as pinky fingers) or toes.
• Sparse scalp hair: Individuals with CSS often have sparse or thinning scalp hair.
• Excessive body hair growth: Some people with CSS may experience excessive body hair growth, particularly on the face and arms.

These features can vary in severity and presentation from person to person, making diagnosis and management of the condition challenging. [8][12]

References:

[8] - Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development. [12] - Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair.

Common Signs and Symptoms of Coffin-Siris Syndrome

Coffin-Siris syndrome (CSS) is a rare genetic condition that affects multiple body systems, and its signs and symptoms can vary widely among individuals. However, some common characteristics associated with CSS include:

• Developmental Disability: Most people with CSS experience significant developmental delays or intellectual disability.
• Abnormalities of the Fifth Fingers or Toes: Underdeveloped or missing fifth fingernails or toenails are a hallmark feature of CSS.
• Characteristic Facial Features: Individuals with CSS often have distinctive facial features, which can include coarse facial features, sparse scalp hair, and excessive body hair.
• Short Stature: Some people with CSS may experience short stature compared to their peers.
• Low Muscle Tone (Hypotonia): Low muscle tone is another common feature of CSS, which can lead to difficulties with physical activities.

These signs and symptoms can vary in severity and presence among individuals with CSS. The condition's impact on an individual's quality of life depends on the specific characteristics they exhibit.

References: * [8] - Short stature, low muscle tone (hypotonia), and abnormally loose skin are some of the other signs and symptoms that may occur in people with this condition. * [10] - Hallmarks of Coffin-Siris syndrome include developmental disability, abnormalities of the fifth fingers or toes, and characteristic facial features.

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: The diagnosis is generally based on the presence of major and at least one minor clinical sign, which may include:
  • Aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits
  • Developmental or cognitive delay of varying degree
  • Distinctive facial features (e.g., coarse facial features)
  • Hypotonia (low muscle tone)
  • Hirsutism/hypertrichosis (excessive hair growth)
  • Sparse scalp hair [4][8]
• Molecular Genetic Testing: This can confirm the diagnosis by identifying mutations in one of the 22 genes associated with CSS phenotypes, which include:
  • Sequence and deletion/duplication analysis of all listed genes
  • Analysis of specific genes such as ARID1B [11]

Prenatal Diagnosis: In some cases, prenatal diagnosis may be possible through ultrasound tests or specialized genetic testing. However, this is not a definitive diagnostic method and should be confirmed by postnatal clinical evaluation and molecular genetic testing.

It's essential to consult with a healthcare professional for an accurate diagnosis and to discuss the best course of action for your specific situation.

Treatment Options for Coffin-Siris Syndrome

According to various sources, treatment options for Coffin-Siris syndrome may include:

• Occupational therapy: To help individuals with CSS develop and improve their fine motor skills, hand-eye coordination, and other daily living skills.
• Physical therapy: To address any physical disabilities or limitations caused by the condition.
• Speech therapy: To support communication development and improvement in individuals with CSS.

Additionally, surgical repair may be considered for certain craniofacial abnormalities associated with the condition. However, it's essential to note that treatment plans are often tailored to individual needs and may vary depending on the specific symptoms and severity of the condition.

Sources:

• [8] CHKD's Coffin-Siris Syndrome Program – the only one of its kind in the United States – is designed to evaluate, recommend treatment, and manage patients.
• [13] Jan 8, 2024 — Treatment. Treatment for Coffin-Siris syndrome may include: Occupational, physical, speech therapy. Surgical repair of certain craniofacial, ...