hyperphosphatasia with impaired intellectual development syndrome 3

Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3) Description

HPMRS3 is an autosomal recessive disorder characterized by severe intellectual disability [2]. The clinical features of this condition include:

• Abnormality of head or neck
• Broad nasal tip
• Abnormality of limbs
• Abnormality of metabolism/homeostasis
• Abnormality of prenatal development

Individuals with HPMRS3 often exhibit severely delayed motor and speech development, and may have increased serum levels of alkaline phosphatase [4]. This condition is typically inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

The clinical phenotype of HPMRS3 can vary, but it is often characterized by varying degrees of developmental delay and intellectual disability, with elevated levels of alkaline phosphatase [8]. This condition is distinct from other hyperphosphatasias due to its specific combination of symptoms.

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Severe Intellectual Disability

Hyperphosphatasia with impaired intellectual development syndrome-3 (HPMRS3) is characterized by severe intellectual disability, which is a significant impairment in cognitive functioning. This symptom is often moderate to severe [6].

Other Symptoms

In addition to severe intellectual disability, individuals with HPMRS3 may also experience:

• Seizures: Interruptions of activities, blank stares, and unresponsiveness when spoken to are common symptoms [1].
• Facial Dysmorphism: Distinctive facial features are a hallmark of this syndrome.
• Muscle Weakness: Muscle weakness is another symptom that may be present in individuals with HPMRS3.
• Pain and Fractures: Pain, fractures of affected bones, and muscle weakness are also associated with this condition [7].

Biochemical Abnormalities

HPMRS3 is characterized by elevated serum alkaline phosphatase levels, which is a biochemical abnormality that distinguishes it from other conditions.

It's worth noting that the symptoms of HPMRS3 can vary in severity and presentation, but severe intellectual disability is a common thread among individuals with this condition.

Based on the provided context, it appears that diagnostic tests for Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3) are related to genetic testing.

• Genetic tests can help identify the underlying cause of HPMRS3, which is often associated with mutations in the PGAP2 gene [1][5].
• A Next-Generation Sequencing (NGS) test for the PGAP2 gene is available and can be used to diagnose HPMRS3 [5].

It's worth noting that while genetic testing can provide a diagnosis of HPMRS3, it may not necessarily confirm the presence of intellectual disability or other clinical features associated with the syndrome.

References: [1] - Context result 9: Hyperphosphatasia with impaired intellectual development syndrome-3 (HPMRS3) is an autosomal recessive disorder characterized by severe intellectual ... [5] - Context result 5: Genetic tests related with Hyperphosphatasia with Impaired Intellectual Development Syndrome 3. #, Genetic test, Condition, Affiliated genes. 1, PGAP2 - NGS ...

Treatment Options for Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)

Hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3) is a rare genetic disorder characterized by severe intellectual disability, distinctive facial features, and increased levels of an enzyme called alkaline phosphatase in the blood. While there is no cure for HPMRS3, research has shown that certain medications can help manage its symptoms.

Pyridoxine and Folinic Acid Supplementation

Studies have demonstrated that supplementation with pyridoxine (vitamin B6) and folinic acid can lead to normalization of biochemical abnormalities associated with HPMRS3 [1][2]. This treatment approach has been shown to improve developmental progress in patients with this condition [9].

Other Treatment Options

While there is limited information available on other potential treatments for HPMRS3, research suggests that a multidisciplinary approach involving medical professionals from various specialties may be beneficial in managing the symptoms of this disorder.

References:

[1] Messina et al. (2023). Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid [Context #4].

[2] Messina et al. (2023). Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid [Context #7].

[9] Messina et al. (2023). A new case of an HPMRS patient providing novel insights into symptomatology and disease management with pyridoxine and folinic acid [Context #8].

Differential Diagnosis of HPMRS3

Hyperphosphatasia with impaired intellectual development syndrome-3 (HPMRS3) is a rare autosomal recessive disorder characterized by severe intellectual disability, hypotonia with poor motor development, poor speech, and increased serum alkaline phosphatase. When considering the differential diagnosis for HPMRS3, several conditions should be taken into account.

• Mabry Syndrome: This condition shares similar features with HPMRS3, including intellectual disability, distinctive facial features, and elevated levels of alkaline phosphatase in the blood (hyperphosphatasia). However, Mabry syndrome is caused by mutations in the PIGL gene, whereas HPMRS3 is associated with defects in the PGAP2 gene.
• CHIME Syndrome: This rare disorder, also known as Zunich neuroectodermal syndrome, presents with similar symptoms to HPMRS3, including intellectual disability and elevated alkaline phosphatase levels. However, CHIME syndrome is caused by mutations in the PIGL gene, which differs from the genetic cause of HPMRS3.
• Hyperphosphatasia-Intellectual Disability Syndrome: This condition shares similarities with HPMRS3, including increased levels of alkaline phosphatase and intellectual disability. However, the underlying genetic mutations differ between the two conditions.

Key differences in diagnosis

When differentiating HPMRS3 from other conditions, consider the following key factors:

• Genetic cause: HPMRS3 is caused by defects in the PGAP2 gene, whereas Mabry syndrome and CHIME syndrome are associated with mutations in the PIGL gene.
• Severity of intellectual disability: While all three conditions present with intellectual disability, the severity can vary. HPMRS3 often presents with severe intellectual disability, whereas Mabry syndrome and CHIME syndrome may have more variable presentations.
• Elevated alkaline phosphatase levels: All three conditions are characterized by elevated alkaline phosphatase levels, but the specific context and implications of these findings differ between each condition.

Clinical evaluation

A comprehensive clinical evaluation is essential for accurate diagnosis. This includes:

• Medical history: A thorough review of the patient's medical history to identify any relevant symptoms or conditions.
• Physical examination: A detailed physical examination to assess for any distinctive facial features, hypotonia, or other characteristic signs.
• Laboratory tests: Laboratory tests, including blood work and genetic analysis, can help confirm the diagnosis.

Consultation with specialists

Given the rarity of HPMRS3 and its similarities to other conditions, consultation with specialists in genetics, neurology, and pediatrics is crucial for accurate diagnosis and management.