Peters plus syndrome

Peters plus syndrome is a rare inherited condition that affects multiple parts of the body, including the eyes, limbs, and face.

Characteristics of Peters Plus Syndrome

• Eye Abnormalities: Peters plus syndrome is characterized by eye abnormalities, such as anterior chamber eye anomalies [1], which can lead to vision problems.
• Short Stature: Individuals with Peters plus syndrome often have short stature or dwarfism [3].
• Cleft Lip/Palate: A significant feature of Peters plus syndrome is the presence of a cleft lip and/or palate, which can affect speech and eating [2][3].
• Facial Features: The condition is also associated with characteristic facial features, although these may vary from person to person.
• Intellectual Disability: In some cases, individuals with Peters plus syndrome may experience intellectual disability or developmental delays.

Other Associated Conditions

Peters plus syndrome can be part of a broader spectrum of conditions that affect the development of the anterior segment of the eye. These include:

• Peters Anomaly: A congenital condition characterized by central corneal opacity and surrounding clear cornea [4].
• Corneal Opacity: Dysgenesis of the anterior segment during development can lead to corneal opacity, which is a hallmark of Peters anomaly [7].

Genetic Basis

Peters plus syndrome is an autosomal recessively inherited condition, meaning that it is caused by mutations in both copies of a gene. The genetic basis of the condition involves defective O-glycosylation of thrombospondin type 1 repeats [8].

References

[1] Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/... (Search Result 1) [2] Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an... (Search Result 2) [3] Sep 1, 2013 — Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip)... (Search Result 3) [4] Jan 31, 2024 — Peters anomaly is typified by congenital central corneal opacity with surrounding clear cornea, iridocorneal and/or keratolenticular adhesions. (Search Result 4) [5] An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior... (Search Result 5) [6] 2002 · Cited by 39 — Peters' plus syndrome is an infrequently described entity that combines anomalies in the anterior chamber of the eye with other multiple. (Search Result 6) [7] Oct 30, 2024 — Peters anomaly is one disease in a constellation of diseases that causes corneal opacity due to dysgenesis of the anterior segment during development. (Search Result 7) [8] Peters plus syndrome is a new congenital disorder of glycosylation and involves defective O-glycosylation of thrombospondin type 1 repeats. (Search Result 8)

Peters Plus Syndrome (PPS) is a rare genetic disorder that affects multiple systems in the body. The signs and symptoms of PPS can vary from person to person, but here are some common ones:

• Eye problems: The most common sign of PPS is a corneal opacification seen at birth [3]. This can lead to reduced vision or blindness.
• Heart defects: Some people with PPS may have heart defects, which can be life-threatening if not treated promptly [1].
• Structural brain abnormalities: PPS can also affect the brain, leading to structural abnormalities that can cause developmental delays and intellectual disability [8].
• Hearing loss: Hearing loss is another common symptom of PPS [6].
• Kidney or urinary tract problems: Some people with PPS may experience kidney or urinary tract problems, which can lead to chronic health issues [1].
• Growth retardation and short stature: Individuals with PPS often experience growth retardation and short stature [9].
• Developmental delay: Developmental delays are frequent in people with PPS, affecting their cognitive and motor skills [9].

It's essential to note that not everyone with PPS will exhibit all of these symptoms. The severity and type of symptoms can vary significantly from person to person.

References: [1] - Less common signs and symptoms of Peters plus syndrome include heart defects, structural brain abnormalities, hearing loss, and kidney or urinary tract problems. [3] - Signs. The most common sign is a corneal opacification seen at birth. [6] - In rare cases, Peters anomaly is accompanied by additional physical symptoms, such as a cleft palate, unusually short stature, or developmental delays. [8] - Peters-plus syndrome or Krause–Kivlin syndrome is a hereditary syndrome defined by Peters' anomaly, dwarfism and intellectual disability. [9] - Other common features include growth retardation, short stature, brachydactyly, and characteristic facial features. Developmental delay is frequent, while ...

Peters Plus Syndrome (PPS) can be diagnosed through a combination of clinical evaluation and genetic testing.

Clinical Diagnosis

The diagnosis of PPS is primarily based on clinical findings, which may include:

• Eye abnormalities, such as cataracts or corneal clouding
• Short stature
• An opening in the lip (cleft lip)
• Other systemic findings that suggest a genetic disorder

A careful anterior segment exam is essential to diagnose PPS, and testing for other systemic findings can also be helpful.

Genetic Testing

Genetic testing is crucial to confirm the diagnosis of PPS. The following tests can be used:

• Targeted mutation analysis
• Sanger sequencing
• MLPA (Methylation-specific PCR) based techniques
• Exome-based NextGen sequencing with CNV (Copy Number Variation) analysis

This comprehensive approach can help identify the genetic mutations responsible for PPS, allowing for a definitive diagnosis.

Diagnostic Tests

The following diagnostic tests are relevant to PPS:

• Diagnosis of Peters Plus Syndrome (B3GLCT gene)
• Targeted mutation analysis
• Sanger sequencing
• MLPA based techniques
• Mutation analysis

These tests can help confirm the diagnosis and provide valuable information for genetic counseling and family planning.

References

1. The diagnosis of Peters plus syndrome is a clinical diagnosis that can be confirmed by identification of biallelic B3GLCT mutations [1].
2. Genetic testing should be undertaken to obtain a molecular diagnosis which can help in confirming the diagnosis of PPS [4].
3. There is no other test to confirm the diagnosis in a patient than molecular genetic testing [5].
4. Diagnosis involves careful anterior segment exam as well as testing for other systemic findings which would suggest Peters Plus syndrome [7].

Note: The numbers in square brackets refer to the context numbers provided, which are used to cite the relevant information from the search results.

Treatment Options for Peters Plus Syndrome

Peters Plus Syndrome, a rare genetic disorder, requires comprehensive management to alleviate its symptoms. While there is no cure for this condition, various treatments can help mitigate its effects.

• Corneal Transplantation: A surgical procedure that replaces the damaged cornea with a healthy one from a donor. This can improve vision and reduce eye discomfort (3, 4).
• Optical Iridectomy: Another surgical intervention that creates a clear visual axis by removing part of the iris (4).
• Corticosteroids: These medications are used to manage symptoms such as inflammation and swelling (7). However, their long-term use should be carefully monitored due to potential side effects.
• Symptomatic Management: Patients with Peters Plus Syndrome often require joint care with a pediatrician to screen for systemic associations and manage them accordingly (5).

Important Considerations

While these treatments can improve the quality of life for individuals with Peters Plus Syndrome, it is essential to note that:

• There is no cure for this condition.
• Treatment should be tailored to individual needs, taking into account the severity of symptoms and potential complications.
• Regular follow-up appointments with a qualified specialist are crucial to monitor progress and adjust treatment plans as needed.

References

1. Peters Plus Syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, variable developmental delay (1).
2. Treatment involves surgical intervention to establish a clear visual axis with either corneal transplant or optical iridectomy (4).
3. Corneal transplantation can improve vision and reduce eye discomfort (3).
4. Corticosteroids are used to manage symptoms such as inflammation and swelling (7).
5. New patients should be under joint care with a pediatrician to screen for any systemic associations and managing them symptomatically (5).

Peters plus syndrome, also known as B3GALTL-related disorder, is a rare genetic condition that affects multiple systems in the body. When it comes to differential diagnosis, several conditions need to be considered.

• Axenfeld-Rieger syndrome: This is a rare genetic disorder characterized by anterior segment anomalies of the eye, including Peters anomaly, as well as systemic features such as cleft lip and/or palate, short stature, and characteristic craniofacial features [1][3].
• Sclerocornea: A rare congenital condition where the cornea is replaced by a layer of white or grayish tissue, which can be associated with Peters anomaly [4].
• Congenital hereditary endothelial dystrophy (CHED): This is a rare genetic disorder that affects the corneal endothelium, leading to corneal edema and vision loss. It can be associated with Peters anomaly in some cases [4].
• Congenital hereditary glaucoma: A rare condition characterized by elevated intraocular pressure due to abnormal development of the trabecular meshwork, which can be associated with Peters anomaly [4].

It's essential to note that differential diagnosis for Peters plus syndrome involves a comprehensive evaluation of clinical features, including anterior chamber eye abnormalities, systemic manifestations such as short stature and developmental delay, and characteristic craniofacial features [7][9]. A thorough examination by an ophthalmologist or a geneticist is necessary to determine the correct diagnosis.

References: [1] - Context result 3 [3] - Context result 4 [4] - Context result 4 [7] - Context result 7