hyperphosphatasia with impaired intellectual development syndrome 2

Hyperphosphatasia with Impaired Intellectual Development Syndrome 2 (HPMRS2) Description

Hyperphosphatasia with impaired intellectual development syndrome 2 (HPMRS2) is a rare, autosomal recessive disorder characterized by moderately to severely delayed psychomotor development [6]. This condition is marked by an abnormal increase in alkaline phosphatase levels in the blood, which is a key diagnostic feature [5].

Individuals with HPMRS2 often exhibit intellectual disability, ranging from moderate to severe, and may experience seizures [3]. The disorder is also associated with distinctive facial features, including a broad nasal tip and hallux (big toe) [4].

HPMRS2 is a congenital condition, meaning it is present at birth, and its symptoms can vary in severity among affected individuals. The disorder is caused by compound heterozygous mutations in the genes responsible for glycosylation-related bone disorders [7].

Based on the provided context, here are the signs and symptoms of Hyperphosphatasia with Impaired Intellectual Development Syndrome 2 (HPMRS2):

• Intellectual Disability: People with HPMRS2 typically have moderate to severe intellectual disability [5].
• Little to No Speech Development: Affected individuals often experience little to no speech development, which is a significant delay in their communication skills [1].
• Severe Developmental Delay: The condition is characterized by severe developmental delay, which affects various aspects of growth and development [2].
• Hypotonia: Individuals with HPMRS2 may exhibit hypotonia, or low muscle tone, which can lead to difficulties with motor skills such as sitting, crawling, and walking [1].
• Seizures: Seizures are a common symptom associated with HPMRS2 [9].

It's essential to note that the severity of these symptoms can vary among individuals with HPMRS2.

Based on the provided context, it appears that diagnostic tests for Hyperphosphatasia with Impaired Intellectual Development Syndrome 2 (HPMRS2) are related to genetic testing.

• Genetic tests can help identify the condition and confirm a diagnosis of HPMRS2. [7]
• The genetic test associated with HPMRS2 is listed as #1 in the table provided, but unfortunately, the specific details about the test are not available in the context. However, it is mentioned that genetic tests related to HPMRS2 can provide valuable information for diagnosis and management of the condition.
• It's worth noting that while genetic testing can be a useful diagnostic tool, it may not be the only factor considered in diagnosing HPMRS2. A comprehensive evaluation by a healthcare professional, including clinical features and medical history, is likely to be an essential part of the diagnostic process.

It's also important to note that Hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4) has been mentioned in the context as another condition related to HPMRS2. However, it seems to have distinct characteristics and associated genes compared to HPMRS2.

If you're looking for more information on diagnostic tests or genetic testing for HPMRS2, I can try to provide a more detailed answer based on general knowledge. However, please keep in mind that the context provided is limited, and further research may be necessary to obtain accurate and up-to-date information.

Based on

Differential Diagnosis of HPMRS2

Hyperphosphatasia with impaired intellectual development syndrome 2 (HPMRS2) is a rare autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). When considering the differential diagnosis of HPMRS2, several other conditions should be taken into account.

Conditions with Similar Features

• Mabry Syndrome: This condition is characterized by intellectual disability, distinctive facial features, and increased levels of an enzyme called alkaline phosphatase. [1][3][6]
• Coffin-Siris Syndrome: A rare genetic disorder that affects development and causes intellectual disability, among other symptoms. Some cases have been associated with hyperphosphatasia. [11]
• CHIME Syndrome (Zunich Neuroectodermal Syndrome): A rare condition characterized by intellectual disability, facial dysmorphism, and increased levels of alkaline phosphatase. [8]

Key Differentiators

While these conditions share some similarities with HPMRS2, there are distinct differences in their clinical presentations.

• HPMRS2: Characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase. [1][12]
• Mabry Syndrome: Intellectual disability, distinctive facial features, and increased levels of alkaline phosphatase are key features. [3][6]
• Coffin-Siris Syndrome: Intellectual disability, intellectual disability, and other developmental delays are primary symptoms. Some cases have been associated with hyperphosphatasia. [11]

Genetic Considerations

HPMRS2 is an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to express the condition. Other conditions like Mabry Syndrome and Coffin-Siris Syndrome may have different genetic inheritance patterns.

In conclusion, while HPMRS2 shares some similarities with other rare syndromes, its unique combination of features and autosomal recessive inheritance pattern set it apart as a distinct clinical entity.

References:

[1] Context result 1 [3] Context result 3 [6] Context result 6 [8] Context result 8 [11] Context result 11 [12] Context result 12