hyperphosphatasia with impaired intellectual development syndrome 6

Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 (HPMRS6)

Hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, severe intellectual disability, and increased levels of alkaline phosphatase in the blood (hyperphosphatasia).

Clinical Features

• Abnormal head or neck features
• Anteverted nares
• Abnormality of limbs, including 2-3 toe syndactyly
• Abnormality of metabolism/homeostasis
• Other signs and symptoms may include cleft palate, abnormal teeth, megalocornea, congenital heart defects, epilepsy, and mild to severe hearing loss.

Genetic Cause

HPMRS6 is caused by a homozygous mutation in the PIGY gene on chromosome 4q22. This genetic mutation leads to the development of this rare syndrome.

References

• [1] - Clinical features of HPMRS6, including abnormal head or neck features and anteverted nares.
• [2] - Abnormality of limbs, including 2-3 toe syndactyly.
• [6] - Description of HPMRS6 as an autosomal recessive multisystem disorder characterized by global developmental delay and hyperphosphatasia.
• [7] - Clinical features of HPMRS6, including cleft palate, abnormal teeth, megalocornea, congenital heart defects, epilepsy, and mild to severe hearing loss.

Symptoms of Hyperphosphatasia with Impaired Intellectual Development Syndrome 6

Hyperphosphatasia with impaired intellectual development syndrome 6 (HPMRS6) is a rare genetic disorder characterized by several distinct symptoms. Some of the key signs and symptoms associated with HPMRS6 include:

• Intellectual Disability: Individuals with HPMRS6 often experience significant cognitive impairment, which can range from mild to severe.
• Hyperphosphatasia: Elevated levels of alkaline phosphatase in the blood are a hallmark feature of this condition. This enzyme is typically involved in bone mineralization and growth.
• Abdominal Pain: Abdominal pain has been reported as a symptom in some cases of HPMRS6.
• Ear Malformation: Individuals with HPMRS6 may exhibit ear malformations, including large or thickened ears.
• Growth Retardation: Growth retardation is another common feature associated with this condition.

It's essential to note that the severity and presentation of symptoms can vary significantly among individuals with HPMRS6. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and proper management of this condition.

References:

• [2] - Abdominal pain, ear malformation, large earlobe; Thickened ears.
• [3] - Symptoms and other information about Hyperphosphatasia-intellectual disability syndrome.

Diagnostic Tests for Hyperphosphatasia with Impaired Intellectual Development Syndrome 6

Hyperphosphatasia with impaired intellectual development syndrome 6 (HPMRS-6) is a rare genetic disorder characterized by high levels of alkaline phosphatase in the blood, along with intellectual disability and distinctive facial features. The following diagnostic tests are used to confirm the diagnosis:

• Clinical Tests: Clinical features such as anteverted nares, abnormality of limbs (2-3 toe syndactyly), and abnormality of metabolism/homeostasis are observed during physical examination [1].
• Genetic Tests: Genetic tests related to HPMRS-6 include:
  • Syndromic genetic test #1: Affiliated genes [3]
  • Molecular Genetics Tests: 8 available clinical tests in the database for this condition [1]
• Laboratory Studies: Laboratory studies show increased serum alkaline phosphatase levels, which is a key diagnostic feature of HPMRS-6 [4].
• Imaging Services: Imaging services such as X-ray and ultrasound may be used to rule out other conditions that may present with similar symptoms.

It's worth noting that the diagnosis of HPMRS-6 is often confirmed through a combination of clinical, genetic, and laboratory tests. A thorough evaluation by a qualified healthcare professional is necessary for an accurate diagnosis.

References:

[1] Clinical features observed during physical examination. [2] Genetic test #1: Affiliated genes. [3] Molecular Genetics Tests: 8 available clinical tests in the database for this condition. [4] Laboratory studies show increased serum alkaline phosphatase levels.

Treatment Options for Hyperphosphatasia with Impaired Intellectual Development Syndrome (HPMRS)

According to the search results, supplementation with pyridoxine and folinic acid has been found to be effective in normalizing biochemical abnormalities associated with HPMRS. This treatment approach was reported in a case study published by M Messina in 2023 [4][6].

• Pyridoxine and Folinic Acid Supplementation: The patient in the study showed significant improvement after receiving supplementation with pyridoxine and folinic acid, leading to normalization of biochemical abnormalities. This suggests that this treatment approach may be beneficial for individuals with HPMRS.

It's essential to note that more research is needed to fully understand the effectiveness and potential side effects of this treatment approach in a larger population.

References: [4] M Messina · 2023 · Cited by 7 — [6] by M Messina · 2023 · Cited by 7 —

Differential Diagnosis of Hyperphosphatasia with Impaired Intellectual Development Syndrome

Hyperphosphatasia with impaired intellectual development syndrome (HIPID) is a rare genetic disorder characterized by elevated serum alkaline phosphatase and impaired intellectual development. When considering the differential diagnosis for HIPID, several other conditions should be taken into account.

• Mabry Syndrome: This condition is also characterized by elevated serum alkaline phosphatase and intellectual disability. However, Mabry syndrome typically presents with distinctive facial features, which may not be present in all cases of HIPID [4].
• CHIME Syndrome (Zunich Neuroectodermal Syndrome): This rare disorder shares some similarities with HIPID, including impaired intellectual development and dysmorphic features. However, CHIME syndrome is typically associated with more severe neurological abnormalities, such as seizures and hypotonia [6].
• Hyperphosphatasia Type 3: This condition is caused by a defect in the PGAP2 gene encoding the lipid remodeling step of GPI-anchored protein synthesis. It presents with elevated serum alkaline phosphatase and intellectual disability, but may not be associated with the same level of severity as HIPID [8].
• Hereditary Hyperphosphatasia: This rare genetic bone disorder typically becomes apparent during infancy or early childhood and is characterized by elevated serum alkaline phosphatase. However, it does not appear to be associated with impaired intellectual development [9].

It's essential to note that each of these conditions has distinct clinical features, and a comprehensive diagnostic evaluation should be performed to determine the specific diagnosis.

References: [4] Mabry syndrome is characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase (Aug 1, 2013). [6] Mutations in PIGL have been linked to two rare distinctive syndromes: CHIME syndrome (Zunich neuroectodermal syndrome) and Mabry syndrome (hyperphosphatasia with impaired intellectual development syndrome) (by R Altassan · 2018 · Cited by 18). [8] Hyperphosphatasia with mental retardation syndrome type 3 is caused by a defect in the PGAP2 gene encoding the lipid remodelling step of GPI-anchored protein synthesis (by M Messina · 2023 · Cited by 7). [9] Hereditary hyperphosphatasia is a rare genetic bone disorder that usually becomes apparent during infancy or early childhood (Aug 1, 2013).