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ICD-10: Q87.84

Laurence-Moon syndrome

Additional Information

Description

Laurence-Moon syndrome (LMS) is a rare genetic disorder characterized by a combination of symptoms that primarily affect the nervous system and other bodily systems. The ICD-10 code for Laurence-Moon syndrome is Q87.84, which falls under the category of "Other specified congenital malformation syndromes" [1].

Clinical Features

1. Neurological Manifestations

Laurence-Moon syndrome is often associated with neurological deficits, which can include:
- Retinitis Pigmentosa: A progressive degeneration of the retina leading to vision loss, often starting with night blindness and peripheral vision loss.
- Hypogonadism: This condition can lead to underdeveloped sexual organs and may affect secondary sexual characteristics.
- Intellectual Disability: Many individuals with LMS may experience varying degrees of cognitive impairment.

2. Physical Abnormalities

Patients may exhibit several physical features, including:
- Short Stature: Individuals with LMS often have a shorter than average height.
- Skeletal Anomalies: These can include limb malformations and other skeletal irregularities.
- Obesity: Some patients may struggle with obesity due to metabolic issues.

3. Other Associated Conditions

Laurence-Moon syndrome can also be associated with other health issues, such as:
- Kidney Abnormalities: Some patients may have renal anomalies, which can affect kidney function.
- Endocrine Disorders: Hormonal imbalances may occur, impacting growth and development.

Genetic Basis

Laurence-Moon syndrome is typically inherited in an autosomal recessive manner, meaning that both copies of the gene in each cell have mutations. The condition is linked to mutations in several genes, including MERTK and BBS genes, which are also associated with Bardet-Biedl syndrome, indicating a genetic overlap between these two syndromes [1][2].

Diagnosis

Diagnosis of Laurence-Moon syndrome is primarily clinical, based on the presence of characteristic symptoms and family history. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes. Additionally, ophthalmological examinations are crucial for assessing retinal degeneration, and imaging studies may be used to evaluate any skeletal or neurological abnormalities [2].

Management and Treatment

Currently, there is no cure for Laurence-Moon syndrome, and treatment is symptomatic and supportive. Management strategies may include:
- Vision Support: Use of visual aids and orientation training for those with significant vision loss.
- Hormonal Therapy: For individuals with hypogonadism, hormone replacement therapy may be beneficial.
- Physical Therapy: To address mobility issues and improve physical function.
- Nutritional Support: To manage obesity and ensure proper growth and development.

Conclusion

Laurence-Moon syndrome is a complex condition with a range of clinical manifestations that require a multidisciplinary approach for management. Early diagnosis and intervention can significantly improve the quality of life for affected individuals. Ongoing research into the genetic underpinnings of LMS may provide further insights into potential therapeutic avenues in the future [1][2].

References

  1. ICD-10 Coding Manual List of all Reportable Congenital Malformation Syndromes.
  2. Decoding 2024 ICD-10 CM Changes: A Four-Part Series.

Clinical Information

Laurence-Moon syndrome (LMS) is a rare genetic disorder characterized by a combination of clinical features that primarily affect the eyes, central nervous system, and other organ systems. The ICD-10-CM code for Laurence-Moon syndrome is Q87.84, which categorizes it under congenital malformations, deformations, and chromosomal abnormalities. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with this syndrome.

Clinical Presentation

Laurence-Moon syndrome typically presents in early childhood, although some symptoms may not become apparent until later in life. The syndrome is often diagnosed based on a combination of clinical findings and family history.

Signs and Symptoms

  1. Ocular Abnormalities:
    - Retinitis Pigmentosa: A progressive degeneration of the retina leading to vision loss, often starting with night blindness and peripheral vision loss.
    - Bilateral Cataracts: Clouding of the lens in both eyes, which can further impair vision.
    - Optic Nerve Atrophy: Damage to the optic nerve can result in reduced visual acuity.

  2. Neurological Features:
    - Developmental Delays: Children may experience delays in reaching developmental milestones, including speech and motor skills.
    - Intellectual Disability: Varying degrees of cognitive impairment may be present.
    - Seizures: Some patients may experience seizures due to neurological involvement.

  3. Endocrine and Metabolic Issues:
    - Hypogonadism: Reduced function of the gonads can lead to delayed or absent puberty.
    - Obesity: Many individuals with LMS may struggle with obesity due to metabolic dysregulation.

  4. Skeletal Abnormalities:
    - Short Stature: Growth may be affected, leading to shorter than average height.
    - Skeletal Dysplasia: Some patients may exhibit skeletal deformities or abnormalities.

  5. Other Features:
    - Polydactyly: Extra fingers or toes may be present in some individuals.
    - Hearing Loss: Sensorineural hearing loss can occur, although it is less common.

Patient Characteristics

Laurence-Moon syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for a child to be affected. The following characteristics are often observed in patients:

  • Age of Onset: Symptoms typically manifest in early childhood, although some may not be diagnosed until later due to the gradual progression of symptoms.
  • Gender: The syndrome affects both males and females equally.
  • Family History: A family history of LMS or related syndromes may be present, as the condition is genetic.
  • Ethnic Background: While LMS can occur in any ethnic group, certain populations may have a higher prevalence due to genetic factors.

Conclusion

Laurence-Moon syndrome is a complex condition with a diverse range of symptoms affecting multiple systems in the body. Early diagnosis and a multidisciplinary approach to management are crucial for addressing the various challenges faced by individuals with this syndrome. Genetic counseling may also be beneficial for affected families to understand the inheritance patterns and implications for future pregnancies. As research continues, further insights into the genetic underpinnings and potential treatments for LMS may emerge, offering hope for improved outcomes for patients.

Approximate Synonyms

Laurence-Moon syndrome, classified under the ICD-10-CM code Q87.84, is a rare genetic disorder characterized by a combination of symptoms, including retinitis pigmentosa, intellectual disability, and various physical anomalies. Understanding the alternative names and related terms for this syndrome can provide clarity for healthcare professionals and researchers. Below is a detailed overview of these terms.

Alternative Names for Laurence-Moon Syndrome

  1. Laurence-Moon-Bardet-Biedl Syndrome: This term is often used interchangeably with Laurence-Moon syndrome, particularly in discussions about syndromes that share similar features, such as obesity and polydactyly. However, it is important to note that Bardet-Biedl syndrome is a distinct condition with its own set of criteria.

  2. Laurence-Moon Syndrome (LMS): The abbreviation LMS is commonly used in medical literature and discussions to refer to Laurence-Moon syndrome.

  3. Laurence-Moon Syndrome Type 1: This designation may be used in genetic studies to differentiate between various types of syndromes that exhibit overlapping symptoms.

  4. Retinitis Pigmentosa with Mental Retardation: This term highlights two of the primary features of Laurence-Moon syndrome, emphasizing the visual impairment and cognitive challenges associated with the condition.

  5. Congenital Retinal Dystrophy: While this term is broader, it can be related to Laurence-Moon syndrome due to the retinal degeneration that occurs in affected individuals.

  1. Genetic Syndromes: Laurence-Moon syndrome is part of a broader category of genetic syndromes that involve multiple congenital anomalies and intellectual disabilities.

  2. Congenital Malformation Syndromes: This term encompasses various syndromes, including Laurence-Moon syndrome, that are characterized by structural abnormalities present at birth.

  3. ICD-10-CM Q Codes: The Q codes in the ICD-10-CM classification system are used for congenital malformations, and Q87.84 specifically pertains to Laurence-Moon syndrome. Other related codes may include Q87.8, which refers to other specified congenital malformation syndromes.

  4. Retinitis Pigmentosa: This is a key feature of Laurence-Moon syndrome, and it is often discussed in the context of the syndrome due to its significant impact on vision.

  5. Intellectual Disability: Many individuals with Laurence-Moon syndrome experience varying degrees of intellectual disability, making this term relevant in discussions about the syndrome.

Conclusion

Laurence-Moon syndrome (ICD-10-CM Q87.84) is associated with several alternative names and related terms that reflect its clinical features and genetic underpinnings. Understanding these terms is crucial for accurate diagnosis, research, and communication among healthcare providers. As research continues, the terminology may evolve, but the core characteristics of the syndrome remain significant in the medical community.

Diagnostic Criteria

Laurence-Moon syndrome (LMS) is a rare genetic disorder characterized by a combination of symptoms that primarily affect vision, growth, and neurological function. The diagnosis of Laurence-Moon syndrome, which is classified under the ICD-10 code Q87.84, involves a comprehensive evaluation based on clinical criteria, family history, and genetic testing. Below is a detailed overview of the criteria used for diagnosing this condition.

Clinical Features

The diagnosis of Laurence-Moon syndrome typically requires the presence of several key clinical features, which may include:

  1. Retinitis Pigmentosa: This is a progressive degeneration of the retina that leads to vision loss. Patients often experience night blindness and peripheral vision loss, which can progress to complete blindness.

  2. Hypogonadism: Individuals with LMS may exhibit underdeveloped sexual organs due to hormonal deficiencies. This can manifest as delayed puberty or infertility.

  3. Obesity: Many patients with Laurence-Moon syndrome present with obesity, which can be attributed to endocrine dysfunction and metabolic issues.

  4. Neurological Impairments: Neurological symptoms may include developmental delays, cognitive impairments, and motor coordination difficulties.

  5. Short Stature: Growth retardation is common, leading to shorter-than-average height in affected individuals.

  6. Other Associated Anomalies: Some patients may have additional features such as polydactyly (extra fingers or toes), renal anomalies, or skeletal abnormalities.

Family History

A thorough family history is crucial in diagnosing Laurence-Moon syndrome, as it is often inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for a child to be affected. Identifying other family members with similar symptoms can support the diagnosis.

Genetic Testing

Genetic testing plays a significant role in confirming the diagnosis of Laurence-Moon syndrome. The following aspects are typically considered:

  1. Identification of Mutations: Genetic testing can identify mutations in specific genes associated with LMS, such as the MERTK gene, which is linked to the condition.

  2. Carrier Testing: For families with a history of Laurence-Moon syndrome, carrier testing can help determine if parents are carriers of the genetic mutations.

  3. Exclusion of Other Conditions: Genetic testing can also help rule out other syndromes that may present with similar symptoms, ensuring an accurate diagnosis.

Diagnostic Criteria Summary

To summarize, the diagnosis of Laurence-Moon syndrome (ICD-10 code Q87.84) is based on:

  • The presence of key clinical features, including retinitis pigmentosa, hypogonadism, obesity, neurological impairments, and short stature.
  • A detailed family history indicating potential genetic inheritance.
  • Genetic testing to confirm the presence of specific mutations associated with the syndrome.

Conclusion

Diagnosing Laurence-Moon syndrome involves a multifaceted approach that combines clinical evaluation, family history assessment, and genetic testing. Given the complexity of the syndrome and its overlapping features with other conditions, a thorough and systematic approach is essential for accurate diagnosis and management. If you suspect Laurence-Moon syndrome in a patient, it is advisable to refer them to a specialist in genetics or a multidisciplinary team for comprehensive evaluation and support.

Treatment Guidelines

Laurence-Moon syndrome (LMS) is a rare genetic disorder characterized by a combination of symptoms, including retinitis pigmentosa, intellectual disability, obesity, and hypogonadism. The ICD-10 code for Laurence-Moon syndrome is Q87.84, which is used for billing and coding purposes in healthcare settings. Given the complexity of the syndrome and its varied manifestations, treatment approaches are typically multidisciplinary and tailored to the individual needs of the patient.

Standard Treatment Approaches

1. Ophthalmologic Management

Patients with Laurence-Moon syndrome often experience vision loss due to retinitis pigmentosa. Regular ophthalmologic evaluations are crucial for monitoring the progression of retinal degeneration. Treatment options may include:

  • Low Vision Aids: Devices such as magnifiers and specialized glasses can help patients maximize their remaining vision.
  • Vitamin A Supplementation: Some studies suggest that high doses of vitamin A may slow the progression of retinitis pigmentosa, although this should be approached cautiously and under medical supervision[1].

2. Endocrine Management

Hypogonadism is a common feature in Laurence-Moon syndrome, particularly in males. Management may involve:

  • Hormone Replacement Therapy: Testosterone replacement for males and estrogen/progesterone for females can help address hormonal deficiencies and associated symptoms[2].
  • Monitoring Growth and Development: Regular assessments by an endocrinologist can help manage growth patterns and metabolic issues, including obesity.

3. Neurological and Developmental Support

Intellectual disability and developmental delays are prevalent in individuals with LMS. Supportive measures include:

  • Educational Interventions: Tailored educational programs and special education services can help address learning challenges.
  • Occupational and Speech Therapy: These therapies can assist in improving daily living skills and communication abilities[3].

4. Nutritional Support

Obesity is a significant concern in Laurence-Moon syndrome, necessitating a focus on nutrition and physical activity:

  • Dietary Management: A balanced diet tailored to the individual’s needs can help manage weight and prevent obesity-related complications.
  • Physical Activity: Encouraging regular physical activity can improve overall health and well-being, although activities should be adapted to the individual's capabilities[4].

5. Psychosocial Support

Given the chronic nature of Laurence-Moon syndrome, psychosocial support is essential:

  • Counseling Services: Psychological support for both patients and families can help cope with the emotional and social challenges associated with the syndrome.
  • Support Groups: Connecting with others who have similar experiences can provide valuable emotional support and resources[5].

6. Genetic Counseling

As Laurence-Moon syndrome is a genetic disorder, genetic counseling is recommended for affected individuals and their families. This can provide:

  • Information on Inheritance Patterns: Understanding the genetic basis of the condition can help families make informed decisions regarding family planning.
  • Support Resources: Genetic counselors can connect families with resources and support networks specific to LMS[6].

Conclusion

The management of Laurence-Moon syndrome requires a comprehensive, multidisciplinary approach tailored to the individual’s specific needs. Regular follow-ups with healthcare providers across various specialties are essential to address the diverse challenges posed by the syndrome. As research continues, new treatment modalities may emerge, offering hope for improved outcomes for individuals affected by this complex condition.

For further information or specific treatment plans, consulting with healthcare professionals who specialize in genetic disorders is recommended.

Related Information

Description

  • Rare genetic disorder affecting nervous and bodily systems
  • Neurological deficits including retinitis pigmentosa and hypogonadism
  • Intellectual disability and varying degrees of cognitive impairment
  • Physical features include short stature, skeletal anomalies, obesity
  • Associated conditions kidney abnormalities, endocrine disorders
  • Typically inherited in autosomal recessive manner with genetic mutations

Clinical Information

  • Progressive vision loss due to retinitis pigmentosa
  • Bilateral cataracts cause clouded lens in both eyes
  • Optic nerve atrophy leads to reduced visual acuity
  • Developmental delays and speech difficulties common
  • Intellectual disability varies from mild to severe
  • Seizures occur due to neurological involvement
  • Hypogonadism causes delayed or absent puberty
  • Obesity due to metabolic dysregulation is prevalent
  • Short stature and skeletal abnormalities are present
  • Polydactyly with extra fingers or toes can occur
  • Sensorineural hearing loss may be experienced

Approximate Synonyms

  • Laurence-Moon-Bardet-Biedl Syndrome
  • Laurence-Moon Syndrome (LMS)
  • Laurence-Moon Syndrome Type 1
  • Retinitis Pigmentosa with Mental Retardation
  • Congenital Retinal Dystrophy

Diagnostic Criteria

  • Progressive retinitis pigmentosa
  • Hypogonadism with delayed puberty
  • Obesity due to endocrine dysfunction
  • Neurological impairments and developmental delays
  • Short stature with growth retardation
  • Polydactyly or skeletal abnormalities
  • Family history of autosomal recessive inheritance
  • Identification of MERTK gene mutations
  • Exclusion of other similar syndromes

Treatment Guidelines

  • Regular ophthalmologic evaluations
  • Low Vision Aids and Vitamin A Supplementation
  • Hormone Replacement Therapy for hypogonadism
  • Monitoring growth and development
  • Educational Interventions and Occupational Therapy
  • Dietary Management and Physical Activity
  • Counseling Services and Support Groups
  • Genetic Counseling for inheritance patterns and resources

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