obsolete Peters-Plus Syndrome

Characteristics of Obsolete Peters-Plus Syndrome

Peters-Plus Syndrome, also known as B3GALTL-related syndrome, is a rare autosomal recessive inherited disorder characterized by various physical and developmental abnormalities.

• Anterior Chamber Eye Anomalies: The syndrome often presents with anomalies in the anterior chamber of the eye, which can lead to conditions such as corneal lesions and congenital glaucoma [1][4].
• Short Limbs with Broad Distal Extremities: Affected individuals may have short limbs with broad distal extremities, a characteristic feature of this syndrome [2][3].
• Characteristic Facial Features: The facial features of those affected by Peters-Plus Syndrome can be quite distinctive, although the exact nature of these features is not specified in the available information.
• Cardiac Malformations and Other Abnormalities: In addition to eye and limb abnormalities, individuals with Peters-Plus Syndrome may also experience cardiac malformations, as well as abnormalities affecting the kidneys, genitalia, and gastrointestinal tract [7].

Symptoms and Diagnosis

The symptoms of Peters-Plus Syndrome can be quite varied and may include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first

Based on the provided context, it appears that Peters-Plus Syndrome has been largely replaced by other conditions or classifications in modern medical literature.

However, based on the search results, here are some signs and symptoms associated with what was previously known as Peters-Plus Syndrome:

• Eye abnormalities: Cloudy patches on the cornea, iris, and lens of the eye (see [7] and [8]). This can lead to vision problems.
• Short stature: Growth retardation and short stature are common features (see [9]).
• Cleft lip: An opening in the lip is a characteristic feature (see [1], [3], and [4]).
• Anterior chamber eye anomalies: Abnormalities in the front part of the eye, including the cornea and iris (see [6] and [10]).
• Developmental delay: Developmental delay is frequent, although not always present (see [9]).

It's essential to note that these symptoms may be associated with other conditions or classifications in modern medical literature. If you're looking for information on a specific condition, I recommend searching for more up-to-date and accurate information.

References:

[1] 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) [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) ... [4] Jan 31, 2024 — Peters Plus Syndrome describes a specific disorder with characteristic presentation of ASD (most commonly Peter's anomaly), cleft lip, cleft ... [6] Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, ... [7] Aug 24, 2024 — People born with this condition experience vision problems due to cloudy patches on the cornea, iris, and lens of the eye. There are treatments ... [8] In Peters anomaly, the central part of the cornea (the transparent window of the eye) is hazy and white in one or both eyes. If both eyes are affected, the ... [9] Other common features include growth retardation, short stature, brachydactyly, and characteristic facial features. Developmental delay is frequent, while ...

Based on the provided context, it appears that Peters Plus Syndrome has been redefined or updated in recent years. However, I can provide information on the diagnostic tests that were previously used to diagnose this condition.

Previous Diagnostic Tests:

• Clinical diagnosis based on identification of biallelic B3GLCT mutations [1][2][3]
• Mutation analysis of B3GALTL (no mutations found in Peters Plus Syndrome-like phenotypes) [6]
• Targeted mutation analysis, Sanger sequencing, MLPA-based techniques, and sequence analysis of selected genes [9]

Note: These diagnostic tests may no longer be relevant or recommended for diagnosing Peters Plus Syndrome, as the condition has likely undergone updates or revisions.

It's essential to consult current medical literature or a healthcare professional for accurate and up-to-date information on diagnostic tests for Peters Plus Syndrome.

Based on my analysis, I was unable to find any relevant information on "Peters-Plus Syndrome" in the provided search results. However, I can provide some general information on drug treatment for rare genetic disorders.

Rare genetic disorders like Peters-Plus Syndrome are often complex and require a multidisciplinary approach to treatment. While there may not be specific information available on this particular syndrome, here are some general points about drug treatment:

• Symptom management: Treatment for rare genetic disorders typically focuses on managing symptoms rather than curing the underlying condition.
• Pharmacological interventions: Medications may be used to alleviate specific symptoms or complications associated with the disorder. For example, medications like anticonvulsants or antidepressants might be prescribed to manage seizures or mood changes.
• Targeted therapies: In some cases, targeted therapies that address specific molecular mechanisms underlying the disorder may be explored.

However, without more information on Peters-Plus Syndrome specifically, it's challenging to provide a detailed answer. If you have any additional context or details about this syndrome, I'd be happy to try and help further.

References: None available due to lack of relevant search results.

Peters-Plus Syndrome, also known as Peters Plus Syndrome (PPS), was a rare genetic disorder characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, and cleft lip/palate.

The differential diagnosis for obsolete Peters-Plus Syndrome includes:

• Isolated Peters' anomaly: A central corneal leukoma, absence of the posterior corneal stroma, and absence of Descemet's membrane [3].
• Axenfeld-Rieger syndrome: A rare genetic disorder characterized by anterior segment dysgenesis, including iris hypoplasia, cataract, and glaucoma [4].
• Sclerocornea: A congenital anomaly where the cornea is replaced by a layer of sclera-like tissue [4].
• Congenital hereditary endothelial dystrophy (CHED): A rare genetic disorder characterized by corneal endothelial dysfunction, leading to corneal edema and vision loss [4].
• Congenital hereditary glaucoma: A rare genetic disorder characterized by elevated intraocular pressure and vision loss due to glaucoma [5].

These conditions share similar clinical features with Peters-Plus Syndrome, making differential diagnosis crucial for accurate diagnosis and treatment.

References:

[1] SAJL Oberstein · 2017 · Cited by 1 — Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/...

[3] 2002 · Cited by 39 — Differential diagnosis. Isolated Peters' anomaly, defined as the combination of a central corneal leukoma, absence of the posterior corneal stroma, absence...

[4] by P Anomaly — Differential Diagnosis · Peters anomaly · Axenfeld-Rieger syndrome · Sclerocornea · Congenital hereditary endothelial dystrophy (CHED) · Congenital hereditary...

[5] by J Jaeken · 2016 · Cited by 11 — The diagnosis has to be confirmed by mutation analysis of B3GALTL. No B3GALTL mutations have been found in Peters plus syndrome-like phenotypes...