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Potocki-Lupski syndrome
ICD-10 Codes
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Description
Potocki-Lupski Syndrome: A Rare Genetic Disorder
Potocki-Lupski syndrome (PTLS) is a rare genetic developmental disorder characterized by various physical and neurological abnormalities. The condition results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell [1][2].
Key Features of Potocki-Lupski Syndrome
- Developmental Delay: Individuals with PTLS often experience significant delays in their developmental milestones, such as sitting, walking, and talking [3].
- Mental Retardation: The condition is associated with varying degrees of mental retardation, ranging from mild to severe [4][5].
- Congenital Anomalies: People with PTLS may be born with congenital anomalies, including heart defects (e.g., dilated aortic root, bicommissural aortic valve), kidney defects, and other structural abnormalities [6].
- Neurobehavioral Abnormalities: Individuals with PTLS often exhibit neurobehavioral problems, such as hypersensitivity to sound, hyperactivity, and sleep disturbances [7][8].
Other Associated Features
- Hypotonia: People with PTLS may experience hypotonia (low muscle tone) [9].
- Pervasive Developmental Disorders: Some individuals with PTLS may develop pervasive developmental disorders, such as autism spectrum disorder [10].
References
[1] Oct 1, 2017 - Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. [2] Oct 1, 2017 - Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome. [3] Aug 24, 2017 - This syndrome is a complex neurodevelopmental disorder characterized by developmental delay and early-onset peripheral neuropathy. [4] Oct 1, 2017 - Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. [5] Aug 24, 2017 - This syndrome is a complex neurodevelopmental disorder characterized by developmental delay and early-onset peripheral neuropathy. [6] Hypersensitive to sound- Which makes it difficult for them to stay focused on the task at hand, and may contribute to their hyperactive behavior seen in some. [7] Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive ... [8] Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome. [9] by LN Kolbasin · 2024 — Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p ... [10] Oct 1, 2017 - Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell.
Additional Characteristics
- Hypotonia
- Developmental Delay
- Mental Retardation
- Congenital Anomalies
- Neurobehavioral Abnormalities
- Pervasive Developmental Disorders
Signs and Symptoms
Overview of Potocki-Lupski Syndrome
Potocki-Lupski syndrome (PTLS) is a rare genetic disorder characterized by various physical, cognitive, and behavioral symptoms. The condition is caused by a deletion or duplication of genetic material on chromosome 17.
Common Signs and Symptoms:
- Intellectual Disability: Individuals with PTLS often experience intellectual disability, ranging from mild to severe [3].
- Autism Spectrum Disorder: Many people with PTLS exhibit symptoms of autism, including difficulties with social interaction, communication, and repetitive behaviors [4].
- Vision and Hearing Problems: Some individuals may experience vision and hearing problems, which can range from mild to severe [1][2][9].
- Dental and Skeletal Abnormalities: Dental and skeletal abnormalities are common in people with PTLS, including issues with tooth development and bone structure [1][2][9].
- Abnormal Kidney Development: Some individuals may experience abnormal kidney development, which can lead to kidney problems [1][2][9].
- Cognitive and Language Deficits: People with PTLS often experience cognitive and language deficits, which can impact daily life and communication [4].
- Neuropsychiatric Disorders: Individuals with PTLS may be at a higher risk for neuropsychiatric disorders, such as anxiety and depression [4].
- Cardiovascular Anomalies: Some people with PTLS may experience cardiovascular anomalies, including issues with the heart's structure and function [7].
Other Possible Symptoms:
- Mild mental retardation
- Poor feeding
- Heart defects
- Developmental delay
- Speech/earning problems
It is essential to note that each individual with Potocki-Lupski syndrome can exhibit a unique combination of symptoms, and the severity of these symptoms can vary widely.
References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 5 [7] - Context result 7 [9] - Context result 9
Additional Symptoms
- Intellectual Disability
- Vision and Hearing Problems
- Autism Spectrum Disorder
- Dental and Skeletal Abnormalities
- Abnormal Kidney Development
- Cognitive and Language Deficits
- Neuropsychiatric Disorders
- Cardiovascular Anomalies
Diagnostic Tests
Potocki-Lupski syndrome (PTLS) can be challenging to diagnose due to its rarity and subtle clinical features. However, several diagnostic tests have been developed to aid in the identification of this condition.
- Karyotyping: This test examines the number and structure of chromosomes in a person's cells. While karyotyping may not always detect PTLS, it can help rule out other genetic conditions [7].
- Fluorescence In Situ Hybridization (FISH): FISH is a molecular cytogenetic technique that can detect specific DNA sequences on chromosomes. This test has been used to identify the duplication of chromosome 17p11.2 in individuals with PTLS [6, 9].
- Multiplex Ligation-dependent Probe Amplification (MLPA): MLPA is another molecular genetic testing method that can detect deletions or duplications of specific DNA sequences. This test has been used to confirm the diagnosis of PTLS by detecting the duplication of chromosome 17p11.2 [6, 9].
- Chromosome Microarray (CMA) Analysis: CMA analysis is a high-resolution genetic testing method that can detect small deletions or duplications of DNA sequences on chromosomes. This test has been used to identify the duplication of chromosome 17p11.2 in individuals with PTLS [6, 9].
- Array Comparative Genomic Hybridization (aCGH): aCGH is another genetic testing method that can detect small deletions or duplications of DNA sequences on chromosomes. This test has been used to identify the duplication of chromosome 17p11.2 in individuals with PTLS [2].
These diagnostic tests are typically performed by molecular geneticists and can provide valuable information for diagnosing Potocki-Lupski syndrome.
References: [1] - Not available (no relevant information found) [2] - Available in context #2 [6] - Available in context #6 [7] - Available in context #7 [9] - Available in context #9
Additional Diagnostic Tests
- Karyotyping
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- Fluorescence In Situ Hybridization (FISH)
- Chromosome Microarray (CMA) Analysis
- Array Comparative Genomic Hybridization (aCGH)
Treatment
Based on the provided context, it appears that there is limited information available on the specific treatment for Potocki-Lupski syndrome (PTLS). However, I can provide some general insights and relevant information.
- There is no specific treatment mentioned in the search results for PTLS. [1][2]
- A study from 2024 mentions a child with PTLS who was taken to the hospital by air ambulance in a state of moderate severity and was on treatment for 10 days, but it does not specify what type of treatment was administered. [4]
- The search results mention that each child with PTLS will benefit from an individualized treatment adapted to their needs, but no specific details are provided. [3]
However, I can provide some general information on the treatment approach for children with PTLS.
- Speech and language therapy may be beneficial in addressing receptive and expressive language deficits, articulation abnormalities, and verbal apraxia associated with PTLS. [2]
- A multidisciplinary team approach may be necessary to address the various needs of a child with PTLS, including medical, educational, and therapeutic interventions.
- The treatment plan for each child will depend on their unique needs and circumstances.
It's essential to consult with a healthcare professional for personalized advice and treatment. [5]
References:
[1] Oct 1, 2017 — Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. [2] Aug 24, 2017 — Speech and language therapy to address receptive and expressive language deficits, articulation abnormalities, and verbal apraxia; Evaluation ... [3] by A Grama · 2021 · Cited by 3 — There is no specific treatment for children with PTLS. Each child will benefit from an individualized treatment adapted to his needs ... [4] by LN Kolbasin · 2024 — Potocki-Lupski syndrome ... She was taken to the hospital by air ambulance in a state of moderate severity and was on treatment for 10 days. [5] Please consult with a healthcare professional for medical advice and treatment.
Recommended Medications
- Speech and language therapy
- Multidisciplinary team approach
- Individualized treatment
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis of Potocki-Lupski syndrome (PTLS) is broad and extensive, due to the wide spectrum of findings and presence of developmental delay, learning problems, and neuropsychiatric disorders. According to various sources [4][5][10], the differential diagnosis of PTLS includes:
- Smith-Magenis syndrome (SMS)
- Down syndrome
- Williams syndrome
- Other chromosomal microduplication syndromes
Additionally, the clinical manifestations of PTLS can also be seen individually or in combination in individuals with other neurodevelopmental disorders [5][10]. The differential diagnosis of PTLS is further complicated by the fact that the duplication in PTLS can be submicroscopic, making it often undetected on routine chromosome analysis [15].
Laboratory molecular genetic research methods such as Chromosomal Microarray Analysis (CMA) and Multiplex Ligation-dependent Probe Amplification (MLPA) are essential for diagnosing PTLS and differentiating it from other conditions [7]. These tests can help identify the specific chromosomal abnormalities associated with PTLS, allowing for a more accurate diagnosis.
It's worth noting that the differential diagnosis of PTLS is extensive and requires a comprehensive evaluation by a multidisciplinary team of healthcare professionals. A thorough medical history, physical examination, and diagnostic testing are necessary to rule out other conditions and confirm the diagnosis of PTLS [12].
Additional Differential Diagnoses
- gene duplication disease
- Other chromosomal microduplication syndromes
- N syndrome
- Smith-Magenis syndrome
Additional Information
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- trisomy 17p11.2
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- A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2.
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