Peters-plus syndrome: Difference between revisions

Revision as of 16:26, 16 February 2025

Peters Plus Syndrome

Peters Plus Syndrome is a rare genetic disorder characterized by a combination of ocular, craniofacial, and skeletal abnormalities. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the syndrome.

Clinical Features

Peters Plus Syndrome is primarily identified by the presence of Peters anomaly, which involves defects in the anterior segment of the eye, leading to corneal opacity and potential glaucoma. Other ocular features may include microphthalmia and cataracts.

In addition to ocular abnormalities, individuals with Peters Plus Syndrome often exhibit distinctive craniofacial features such as a prominent forehead, a broad nasal bridge, and a long philtrum. Skeletal abnormalities may include short stature and brachydactyly.

Genetic Basis

The syndrome is caused by mutations in the B3GALTL gene, which is located on chromosome 13. This gene is responsible for encoding an enzyme involved in the glycosylation of proteins, a process crucial for normal development.

Diagnosis

Diagnosis of Peters Plus Syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the B3GALTL gene. Prenatal diagnosis is possible if the genetic mutation is known in the family.

Management

Management of Peters Plus Syndrome is symptomatic and supportive. Ophthalmologic interventions may be necessary to address vision problems, and regular monitoring for glaucoma is recommended. Early intervention and special education services can help address developmental delays.

Related Pages

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-'''Peters-plus syndrome''' is a rare genetic disorder characterized by a specific eye abnormality, short stature, developmental delay, and distinctive facial features. The syndrome is named after the eye abnormality, which is called Peters anomaly. This anomaly involves the front part of the eye, a clear covering called the cornea, and the iris, which is the colored part of the eye. In people with Peters anomaly, the cornea is cloudy (opaque) and adheres to the iris, which can lead to vision problems.
+== Peters Plus Syndrome ==
-==Symptoms==
+[[File:Autosomal_recessive_-_en.svg|thumb|right|Diagram of autosomal recessive inheritance pattern]]
-The most common symptoms of Peters-plus syndrome include:
-* Peters anomaly, which can cause vision problems
-* Short stature
-* Developmental delay
-* Distinctive facial features, such as a prominent forehead, narrow eye openings (palpebral fissures), an unusually small nose and mouth, and a prominent upper lip
-==Causes==
+'''Peters Plus Syndrome''' is a rare genetic disorder characterized by a combination of ocular, craniofacial, and skeletal abnormalities. It is inherited in an [[autosomal recessive]] pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the syndrome.
-Peters-plus syndrome is caused by mutations in the [[B3GLCT]] gene. This gene provides instructions for making an enzyme that is involved in the modification of a protein called [[laminin]]. Laminin is an important part of the extracellular matrix, which is a lattice-like network of proteins and other molecules that provides structure and support to cells. The B3GLCT enzyme modifies laminin so it can attach (bind) to other proteins and molecules. Mutations in the B3GLCT gene disrupt the function of the enzyme, which impairs the normal formation and function of the extracellular matrix. This disruption leads to the characteristic features of Peters-plus syndrome.
-==Diagnosis==
+=== Clinical Features ===
-Diagnosis of Peters-plus syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing to identify a mutation in the B3GLCT gene.
-==Treatment==
+Peters Plus Syndrome is primarily identified by the presence of [[Peters anomaly]], which involves defects in the anterior segment of the eye, leading to corneal opacity and potential [[glaucoma]]. Other ocular features may include [[microphthalmia]] and [[cataracts]].
-Treatment for Peters-plus syndrome is symptomatic and supportive. It may include surgery to correct the eye abnormalities, growth hormone therapy for short stature, and early intervention services for developmental delay.
-==Prognosis==
+In addition to ocular abnormalities, individuals with Peters Plus Syndrome often exhibit distinctive craniofacial features such as a prominent forehead, a broad nasal bridge, and a long philtrum. Skeletal abnormalities may include short stature and brachydactyly.
-The prognosis for individuals with Peters-plus syndrome varies. Some individuals have normal intelligence and a near-normal life span, while others may have severe intellectual disability and life-threatening complications.
-==See also==
+=== Genetic Basis ===
-* [[Genetic disorder]]
+The syndrome is caused by mutations in the [[B3GALTL]] gene, which is located on chromosome 13. This gene is responsible for encoding an enzyme involved in the glycosylation of proteins, a process crucial for normal development.
+=== Diagnosis ===
+Diagnosis of Peters Plus Syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the B3GALTL gene. Prenatal diagnosis is possible if the genetic mutation is known in the family.
+=== Management ===
+Management of Peters Plus Syndrome is symptomatic and supportive. Ophthalmologic interventions may be necessary to address vision problems, and regular monitoring for glaucoma is recommended. Early intervention and special education services can help address developmental delays.
+== Related Pages ==
 * [[Peters anomaly]]
-* [[B3GLCT]]
+* [[Autosomal recessive disorder]]
-* [[Laminin]]
+* [[Genetic testing]]
-* [[Extracellular matrix]]
+{{Genetic disorders}}
 [[Category:Genetic disorders]]
 [[Category:Rare diseases]]
-[[Category:Syndromes]]
-{{stub}}