Kagami-Ogata syndrome

Kagami-Ogata syndrome (KOS) is a rare genetic imprinting disorder affecting chromosome 14, characterized by a distinct set of physical and developmental features.

Physical Features:

• Typical facial features
• Skeletal abnormalities, including:
  • Coat-hanger appearance of the ribs
  • Bell-shaped thorax
  • Abdominal wall defects (omphalocele and diastasis recti)
• Polyhydramnios (excess amniotic fluid) during pregnancy
• Fetal macrosomia (large size at birth)

Developmental Features:

• Developmental delay
• Intellectual disability
• Feeding difficulties with impaired swallowing
• Joint contractures

These physical and developmental features are a result of abnormal DNA methylation within the chromosome 14q32.2 region, leading to the characteristic phenotype of KOS.

References:

[1] A unique phenotype associated with characteristic face, a small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, ... [3] [2] The characteristic features include a small bell-shaped thorax with a coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly ... [4] [3] Kagami-Ogata syndrome (KOS) is a genetic imprinting disorder affecting chromosome 14, characterized by facial features, rib abnormalities, and ... [5] [4] Kagami–Ogata syndrome is a rare imprinting disorder and its phenotypic overlap with multiple different etiologies hampers diagnosis. [6] [5] Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. [7] [6] Kagami-Ogata syndrome (KOS) is a rare genetic disorder due to paternal uniparental disomy of chromosome 14. Phenotype includes unique facial features, ... [8] [7] Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster. [9] [8] Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities ... [10] [9] Clinical Description. Kagami-Ogata syndrome is characterized by developmental delay, intellectual disability, feeding difficulty, full cheeks and prominent and deep philtrum, small bell-shaped thorax with coat-hanger appearance of the ribs, and abdominal wall defects (omphalocele and diastasis recti). [11] [10] Disease definition. Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities ... [12] [11] Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32. TS most frequently arises from maternal UPD14 or epimutations/deletions on the paternal chromosome, whereas KOS most frequently arises from paternal UPD14 or ... [13] [12] Clinical characteristics: Kagami-Ogata syndrome is characterized by developmental delay, intellectual disability, feeding difficulty with impaired swallowing, full cheeks, prominent and deep philtrum, small bell-shaped thorax with coat-hanger appearance of the ribs, and abdominal wall defects (omphalocele and diastasis recti). Additional common features include joint contractures ... [14] [13] Kagami-Ogata syndrome (KOS) is an ultrarare imprinting disorder characterized by abnormal DNA methylation within the chromosome 14q32.2 region. The syndrome has a recognizable clinical phenotype, consisting of bell-shaped and small thorax, abdominal wall defects, and characteristic facial features. [15]

Kagami-Ogata Syndrome Signs and Symptoms

Kagami-Ogata syndrome is a rare genetic disease characterized by a unique set of signs and symptoms. The following are the common features associated with this condition:

• Polyhydramnios: A condition where there is an excessive amount of amniotic fluid surrounding the fetus during pregnancy.
• Fetal Macrosomia: The baby is larger than average, often due to polyhydramnios.
• Abdominal Wall Defects: The baby may be born with defects in the abdominal wall, such as omphalocele or diastasis recti.
• Skeletal Abnormalities: The most distinctive feature of Kagami-Ogata syndrome is the presence of skeletal abnormalities, including:
  • Bell-shaped thorax: A small chest cavity that gives a bell-like appearance.
  • Coat-hanger ribs: Ribs that have a characteristic coat-hanger shape.
  • Decreased mid to wide thorax diameter ratio in infancy: A specific measurement of the chest cavity that is abnormal in infants with Kagami-Ogata syndrome.
• Feeding Difficulties: Babies with Kagami-Ogata syndrome often experience feeding difficulties and impaired swallowing.
• Dysmorphic Features: The baby may have dysmorphic features, such as a hairy forehead, full cheeks, prominent and deep philtrum, and small bell-shaped thorax.

Additional Symptoms

In addition to the above-mentioned symptoms, individuals with Kagami-Ogata syndrome may also experience:

• Developmental Delay: Delays in developmental milestones, such as speech and motor skills.
• Intellectual Disability: Some individuals with Kagami-Ogata syndrome may have intellectual disability or delayed cognitive development.
• Respiratory Distress: Many babies with Kagami-Ogata syndrome experience respiratory distress immediately after birth.

References

1. [2] - Polyhydramnios and fetal macrosomia are characteristic features of Kagami-Ogata syndrome.
2. [3], [14] - Skeletal abnormalities, including bell-shaped thorax and coat-hanger ribs, are distinctive features of this condition.
3. [4], [10] - Feeding difficulties and impaired swallowing are common symptoms of Kagami-Ogata syndrome.
4. [6] - Developmental delay and intellectual disability may occur in some individuals with Kagami-Ogata syndrome.
5. [7] - Respiratory distress is a frequent symptom immediately after birth.

Note: The numbers in square brackets refer to the search results provided in the context, which were used to generate this answer.

Kagami-Ogata syndrome (KOS) is a rare genetic disorder that can be challenging to diagnose. However, several diagnostic tests are available to confirm the condition.

Molecular Genetic Testing According to search result [3], molecular genetic testing is essential for confirming KOS. This test involves analyzing DNA samples from affected individuals and their family members to identify specific genetic mutations associated with the syndrome.

Parent-of-Origin Analysis Search result [8] mentions that parent-of-origin analysis is a crucial diagnostic tool for KOS. This test helps determine whether the condition is inherited from the mother or father, which can provide valuable information for diagnosis and treatment planning.

Chromosomal Microarray Analysis (CMA) Search result [7] notes that CMA, including array comparative genomic hybridization (aCGH) and SNP array techniques, can detect genetic abnormalities associated with KOS. This test is particularly useful in identifying chromosomal imbalances or deletions that may contribute to the syndrome.

Epigenetic Testing Search result [4] highlights the importance of epigenetic testing in diagnosing KOS. Epigenetic changes, such as hypermethylation, can affect gene expression and contribute to the development of the syndrome.

Diagnostic Flowchart According to search result [1], a diagnostic flowchart proposed by Ogata and Kagami suggests that methylation analysis should be the first-tier diagnostic testing for KOS. Positive methylation analysis results must be followed by parent-of-origin analysis to confirm the diagnosis.

In summary, the diagnostic tests for Kagami-Ogata syndrome include:

• Molecular genetic testing
• Parent-of-origin analysis
• Chromosomal microarray analysis (CMA)
• Epigenetic testing
• Diagnostic flowchart

These tests can help confirm the diagnosis of KOS and provide valuable information for treatment planning.

Medication May Be Indicated for Kagami-Ogata Syndrome

According to various medical sources, medication may be indicated as part of the treatment plan for individuals with Kagami-Ogata syndrome.

• Cardiac Disease: In cases where cardiac disease is present, treatment per cardiologist may involve medication to manage symptoms and prevent complications [1][2].
• Hepatoblastoma: Standard treatment for hepatoblastoma, a type of liver cancer that can occur in individuals with Kagami-Ogata syndrome, typically involves surgical resection and chemotherapy [11].

It's essential to note that the management of Kagami-Ogata syndrome remains symptomatic, and there are no reports of persons with this condition undergoing cardiac surgery [1][2]. A multidisciplinary approach, including mechanical ventilation, tracheostomy, tube feeding, and surgical operations for specific complications, is often employed to manage the various symptoms associated with this rare genetic disorder [9].

References:

[1] Cardiac disease, Treatment per cardiologist, Medication may be indicated; there are no reports of persons w/Kagami-Ogata syndrome having cardiac surgery. [2] Cardiac disease, Treatment per cardiologist, Medication may be indicated; there are no reports of persons w/Kagami-Ogata syndrome having cardiac surgery. [9] by T Ogata · 2016 · Cited by 125 — Management. The management for KOS remains symptomatic, including mechanical ventilation, tracheostomy, tube feeding, surgical operation for ... [11] Treatment per cardiologist: Medication may be indicated; there are no reports of persons w/Kagami-Ogata syndrome having cardiac surgery. Hepatoblastoma: Standard treatment w/surgical resection & chemotherapy: Family/Community: Ensure appropriate social work involvement to connect families w/local resources, respite, & support.

Kagami-Ogata syndrome (KOS) is a rare genetic imprinting disorder that can be challenging to diagnose due to its overlapping features with other conditions. The differential diagnosis for KOS includes:

• Beckwith-Wiedemann Syndrome (BWS): This overgrowth syndrome shares similar clinical signs such as macrosomia, polyhydramnios, and abdominal wall defects [10][15].
• Temple Syndrome (TS): As an imprinting disorder caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32, TS can be distinguished from KOS based on specific genetic patterns [12].
• Prader-Willi Syndrome: Although not directly related to KOS, Temple syndrome is mentioned as a differential diagnosis for Prader-Willi syndrome in the context of identifying three new cases [12].
• Androgenetic Mosaicism: This condition can also be considered in the differential diagnosis for KOS due to its rare occurrence and overlapping features with other genetic disorders [5].

It's essential to note that the clinical diagnosis of KOS is confirmed by the presence of characteristic facial gestalt, increased coat-hanger angle, and decreased M/W ratios, especially when associated with pathognomonic features [13]. A thorough evaluation and genetic testing are necessary to rule out these differential diagnoses and confirm a diagnosis of Kagami-Ogata syndrome.

References:

[5] T. Ogata (2016) - Cited by 125 [10] Kagami-Ogata syndrome is characterized by developmental delay, intellectual disability, feeding difficulty with impaired swallowing, full cheeks, prominent and deep philtrum, small bell-shaped thorax with coat-hanger appearance of the ribs, and abdominal wall defects (omphalocele and diastasis recti). [12] Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32. [13] The facial gestalt and the increased coat-hanger angle are mandatory for the clinical diagnosis of KOS, and the decreased M/W ratios also constitute a diagnostic indication in infancy.