ICD-10: Q93.52

Phelan-McDermid syndrome (PMS) is a genetic disorder characterized by a range of developmental and physical challenges. The ICD-10 code for this syndrome is Q93.52, which became effective on October 1, 2023. Here are the key clinical descriptions and details associated with this condition:

Clinical Features:

• Intellectual Disability: Individuals with PMS often experience varying degrees of intellectual disability, which can range from mild to severe.
• Speech Impairment: Many affected individuals have significant speech delays or may be non-verbal.
• Microcephaly: This condition is often associated with a smaller than average head size, known as microcephaly.
• Ataxia: Patients may exhibit ataxia, which is a lack of voluntary coordination of muscle movements.
• Seizures: Seizures are common in individuals with PMS, adding to the complexity of the syndrome.

Genetic Basis:

• The majority of cases of Phelan-McDermid syndrome result from deletions on chromosome 22, specifically at the 22q13.3 region. This genetic alteration is crucial for the diagnosis and understanding of the syndrome.

Associated Conditions:

• It is important to note that PMS can be associated with other medical conditions, and additional codes may be used to identify these associated conditions during medical documentation and billing.

Usage of the ICD-10 Code:

• The code Q93.52 is a billable diagnosis code, meaning it can be used for reimbursement purposes in healthcare settings. It is included in the ICD-10-CM (Clinical Modification) coding system, which is utilized in the United States for medical billing and documentation.

Importance of Awareness:

• Sharing the ICD code Q93.52 during medical appointments can help raise awareness and support for individuals affected by Phelan-McDermid syndrome, contributing to better understanding and management of the condition within the healthcare system [1][2][4][8][10].

This comprehensive overview provides essential information regarding Phelan-McDermid syndrome and its classification under the ICD-10 coding system.

Phelan-McDermid syndrome (PMS), classified under ICD-10 code Q93.52, presents a range of clinical features and symptoms that can vary significantly among individuals. Here are the key aspects of its clinical presentation, signs, symptoms, and patient characteristics:

Clinical Presentation

• Mental Retardation: Individuals often exhibit mild to moderate intellectual disability, which can impact their learning and development [3][5].
• Distinctive Facial Features: Common characteristics include a flat head, square face, deep-set eyes, prominent forehead, and wide-set eyes [3][5].
• Microcephaly: Many patients present with a smaller than average head size, which is a common feature of the syndrome [5].
• Muscle Hypotonia: Reduced muscle tone is frequently observed, affecting motor skills and physical development [5].

Signs and Symptoms

• Seizures: A significant number of individuals with PMS experience seizures, which can vary in type and frequency [5].
• Sleep Disturbances: Many patients report issues with sleep, which can affect their overall health and behavior [3].
• Behavioral Characteristics: Some children may exhibit behaviors associated with autism spectrum disorder (ASD), including social communication challenges and repetitive behaviors [4][11].
• Congenital Heart Defects: There may be associated heart murmurs or congenital heart defects, which require monitoring and management [6].
• Vertebral Differences: Some individuals may have abnormalities in the spine, which can lead to further complications [6].

Patient Characteristics

• Age of Onset: Symptoms can appear at birth, during infancy, or in early childhood, and the severity can range from mild to severe [11].
• Lifelong Complications: Individuals typically face lifelong challenges associated with the syndrome, although there are no life-threatening organic malformations [13].
• Variability: The signs and symptoms can vary widely from person to person, making each case unique [11][13].

In summary, Phelan-McDermid syndrome is characterized by a combination of intellectual disability, distinctive physical features, and a range of associated health issues. The variability in symptoms and severity necessitates a tailored approach to management and support for affected individuals and their families.

Phelan-McDermid syndrome, designated by the ICD-10 code Q93.52, is known by several alternative names and related terms. These include:

• Phelan-McDermid Disease
• Deletion 22q13 Syndrome
• 22q13 Deletion Syndrome
• Chromosome 22q13.3 Syndrome
• Monosomy 22q13
• Deletion 22q13.3 Syndrome

These terms reflect the genetic basis and characteristics of the syndrome, which is associated with a deletion on chromosome 22 at the 22q13.3 location. The use of these alternative names can help in identifying and discussing the condition in various medical contexts [1][12].

The diagnosis of Phelan-McDermid syndrome (PMS), which is represented by the ICD-10 code Q93.52, is based on several clinical criteria and genetic testing. Here are the key points regarding the diagnostic criteria:

• Genetic Testing: The primary criterion for diagnosing PMS is the identification of a deletion on chromosome 22, specifically at the 22q13.3 region. This deletion can be confirmed through genetic testing methods such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH) [5][6].

• Clinical Features: Patients with PMS often exhibit a range of clinical features, including:

• Intellectual Disabilities: Most individuals have varying degrees of intellectual disability [3][5].
• Speech Impairment: Delays or difficulties in speech development are common [6].
• Microcephaly: Many affected individuals present with a smaller than average head size [6].
• Ataxia: This refers to a lack of voluntary coordination of muscle movements, which can affect balance and movement [6].

• Seizures: A significant number of individuals with PMS experience seizures [6].

• Overlap with Autism Spectrum Disorder (ASD): There is a notable overlap between PMS and autism spectrum disorder, with many individuals diagnosed with PMS also meeting the criteria for ASD [5].

• Additional Codes: When documenting the diagnosis, it may be necessary to use additional codes to specify associated conditions or features, such as other intellectual disabilities or developmental delays [3].

These criteria help healthcare providers accurately diagnose Phelan-McDermid syndrome and ensure appropriate management and support for affected individuals.

Currently, there is no specific treatment for the underlying genetic basis of Phelan-McDermid syndrome (PMS), which is classified under the ICD-10 code Q93.52. The management of PMS typically focuses on addressing the symptoms and associated conditions rather than the genetic cause itself. Here are some standard approaches:

• Multidisciplinary Care: Patients often benefit from a team of healthcare professionals, including geneticists, neurologists, developmental pediatricians, and therapists, to address the various aspects of the syndrome.

• Therapeutic Interventions:

• Physical Therapy: To improve motor skills and mobility.
• Occupational Therapy: To enhance daily living skills and promote independence.

• Speech Therapy: To assist with communication skills, which can be significantly affected in individuals with PMS.

• Educational Support: Special education services may be necessary to cater to the learning needs of children with PMS, as they may have developmental delays and intellectual disabilities.

• Behavioral Interventions: Behavioral therapies can help manage any associated behavioral issues, such as anxiety or autism spectrum behaviors, which are common in individuals with PMS.

• Medical Management: Regular monitoring and treatment of associated medical conditions, such as seizures or gastrointestinal issues, are essential for overall health and well-being.

While these approaches can help manage symptoms and improve quality of life, ongoing research is needed to explore potential therapies targeting the genetic aspects of Phelan-McDermid syndrome [3][12].