Coffin-Siris syndrome 7

Coffin-Siris Syndrome 7 (CSS7) Description

Coffin-Siris Syndrome 7 (CSS7) is a rare genetic disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails [1]. This condition affects several body systems and can be evident at birth (congenital) [2].

The phenotypic description of CSS7 includes:

• Global developmental delay with mild to moderate intellectual disability
• Speech impairment
• Behavioral abnormalities
• Poor overall growth
• Coarse facial features
• Hypoplastic fifth toenails

Additionally, individuals with CSS7 may experience craniofacial malformations such as microcephaly or macrocephaly [2]. The condition is caused by a mutation in the DPF2 gene and can be inherited in an autosomal dominant pattern [9].

It's essential to note that Coffin-Siris Syndrome 7 (CSS7) is a rare genetic disorder, and its symptoms may vary from person to person. A comprehensive diagnosis and evaluation by a qualified healthcare professional are necessary for accurate identification and management of the condition.

References:

[1] Vasileiou et al., 2018 - Summary by Vasileiou et al. [2] OMIM - Description of Coffin-Siris syndrome-7 (CSS7) [9] K Kolokotronis · 2024 - Patients with DPF2 variants typically show global developmental delay with intellectual disability, hypoplasia of the fifth toe- and fingernails, thus fitting the description of CSS7.

Characteristics of Coffin-Siris Syndrome

Coffin-Siris syndrome (CSS) is a condition that affects several body systems, with variable signs and symptoms. The hallmark features of this condition include:

• Developmental disability: Individuals with CSS may experience mild to severe developmental delays or cognitive impairment.
• Abnormalities of the fifth (pinky) fingers or toes: Aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits is a classic characteristic of CSS.
• Characteristic facial features: Coarse facial features are commonly observed in individuals with CSS.

These symptoms can vary in severity and may be accompanied by other signs and symptoms, such as short stature, low muscle tone (hypotonia), and abnormally loose skin.

Diagnostic Tests for Coffin-Siris Syndrome

Coffin-Siris syndrome can be confirmed through molecular genetic testing, which involves analyzing the genes associated with the condition. The diagnostic criteria generally include the presence of major and at least one minor clinical sign.

• Molecular Genetic Testing: This is a key diagnostic tool for Coffin-Siris syndrome. It involves sequencing and deletion/duplication analysis of all the listed genes (see [7] for more information). This test can confirm the diagnosis by identifying mutations in the genes associated with the condition.
• Clinical Evaluation: A thorough clinical evaluation, including physical examination and medical history, is essential to diagnose Coffin-Siris syndrome. The presence of major and at least one minor clinical sign, such as aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair, can support a diagnosis of CSS (see [1], [4], [14] for more information).
• Prenatal Diagnosis: Prenatal diagnosis may also be possible through ultrasound tests, which can identify signs suggestive of Coffin-Siris syndrome in the fetus (see [8] for more information).

It's essential to note that diagnostic criteria are still evolving due to the rarity and clinical variability of the condition. A diagnosis of CSS may be suggested before birth based on specialized tests like ultrasound, but confirmation through molecular genetic testing is usually necessary.

References: [1], [4], [7], [14]

Treatment Options for Coffin-Siris Syndrome

Coffin-Siris syndrome, a rare genetic disorder, requires individualized treatment plans to manage its various symptoms. While there is no specific "cure" for the condition, several treatment options can help alleviate its effects.

• Multidisciplinary Approach: The CHKD's Coffin-Siris Syndrome Program, mentioned in search result 7, employs a multidisciplinary approach to evaluate, recommend treatment, and manage patients. This comprehensive approach involves a team of specialists from various fields.
• Genetic Counseling: Genetic counseling plays a crucial role in understanding the condition, its inheritance pattern, and the risks involved for family members.
• Speech and Occupational Therapy: Speech and occupational therapy can help individuals with Coffin-Siris syndrome develop essential skills, such as communication, fine motor skills, and daily living activities.
• Physical Therapy: Physical therapy can aid in improving mobility, strength, and overall physical function.
• Psychological Support: Emotional support from psychologists or counselors can be beneficial for individuals and their families to cope with the condition's impact on mental health.

Emerging Research and Treatment Options

Recent studies have explored potential treatments for Coffin-Siris syndrome. For instance:

• Acetate supplementation has been shown to restore cognitive deficits caused by ARID1A haploinsufficiency in excitatory neurons (search result 9).
• Other research focuses on identifying novel therapeutic targets and developing personalized treatment plans.

Important Considerations

When seeking treatment for Coffin-Siris syndrome, it's essential to consult with a qualified healthcare professional. They can provide guidance on the most suitable treatment options based on individual needs and circumstances.

Citations:

• Search result 7: CHKD's Coffin-Siris Syndrome Program
• Search result 9: Acetate supplementation restores cognitive deficits caused by ARID1A haploinsufficiency in excitatory neurons.

Differential Diagnoses for Coffin-Siris Syndrome

Coffin-Siris syndrome (CSS) can be challenging to diagnose due to its variable clinical presentation and overlap with other syndromes. The following conditions are considered in the differential diagnosis of CSS:

• Nicolaides-Baraitser syndrome: This condition is characterized by similar facial features, intellectual disability, and hypotonia.
• Cornelia de Lange syndrome (CdLS): CdLS shares similarities with CSS in terms of developmental delays, intellectual disability, and distinctive facial features.
• Brachymorphism-onychodysplasia-dysphalangism (BOD): BOD is a rare condition that presents with similar skeletal abnormalities, including short fingers and toes.

These differential diagnoses are important to consider when evaluating patients suspected of having CSS. A thorough clinical evaluation, including physical examination and genetic testing, is essential for accurate diagnosis.

References

• [7] Sep 6, 2024 — Diagnosis of Coffin-Siris syndrome occurs after birth when doctors notice fifth finger and toe abnormalities as well as facial abnormalities.
• [8] Feb 1, 2016 — Differential Diagnosis · Nicolaides-Baraitser syndrome and Cornelia de Lange syndrome (CdLS) · Brachymorphism-onychodysplasia-dysphalangism (BOD)
• [14] Coffin-Siris syndrome is a clinical and genetically heterogeneous congenital disorder characterized by coarse facial features, intellectual disability, hypoplasia of the distal phalanges, and aplasia or hypoplasia of the nails. ... Table 1 summarizes clinical similarities and differences of these differential diagnoses with respect to Coffin ...