hyperphosphatasia with impaired intellectual development syndrome 4

Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 (HPMRS4)

HPMRS4 is a rare autosomal recessive neurologic disorder characterized by severely delayed developmental milestones [1]. The clinical features of HPMRS4 include:

• Abnormal head or neck: Broad nasal tip
• Abnormal limbs: Shortening of all distal phalanges of the fingers
• Severe intellectual disability: No speech, psychomotor delay, and profound developmental delay

HPMRS4 is a severe condition that affects multiple aspects of development, including cognitive, motor, and physical growth. The disorder is characterized by high levels of alkaline phosphatase in the blood [5].

Key Features:

• Autosomal recessive inheritance pattern
• Severely delayed developmental milestones
• Abnormal head or neck features (broad nasal tip)
• Abnormal limbs (shortening of all distal phalanges of the fingers)
• Severe intellectual disability, no speech, psychomotor delay, and profound developmental delay

References:

[1] Context 1 - HPMRS4 is an autosomal recessive neurologic disorder characterized by severely delayed ... [2] Context 2 - Abnormality of head or neck. Broad nasal tip [3] Context 3 - Abnormality of limbs. Shortening of all distal phalanges of the fingers [4] Context 4 - An autosomal recessive neurologic disorder characterized by profound developmental delay, severe intellectual disability, no speech, psychomotor delay, ... [5] Context 5 - Aug 1, 2013 — Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase ...

Severe Intellectual Disability and Developmental Delay

Hyperphosphatasia with impaired intellectual

Based on the provided context, it appears that diagnostic tests for Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 (HPMRS4) are not explicitly mentioned in the search results. However, I can provide some general information about the condition and its diagnosis.

Hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4) is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, impaired intellectual development, lack of speech acquisition, seizures, and dysmorphic facial features [1][3][4].

Laboratory studies show increased serum alkaline phosphatase levels in individuals with HPMRS4 [4]. This suggests that measuring serum alkaline phosphatase levels may be a useful diagnostic test for this condition.

Additionally, the search results mention Mabry syndrome, which is characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms [7][8]. While Mabry syndrome is a distinct condition from HPMRS4, it shares some similar characteristics.

It's worth noting that the diagnosis of HPMRS4 likely involves a combination of clinical evaluation, laboratory tests, and genetic analysis. However, without more specific information on diagnostic tests for HPMRS4, I can only provide general information about the condition and its potential diagnostic markers.

If you're looking for more detailed information on diagnostic tests for HPMRS4, I recommend consulting a medical professional or a reputable health resource.

Treatment Options for Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 (HPMRS4)

Hyperphosphatasia with impaired intellectual development syndrome 4 (HPMRS4) is a rare genetic disorder characterized by severely delayed psychomotor development, impaired intellectual development, lack of speech acquisition, seizures, and dysmorphic facial features. While there is no cure for HPMRS4, various treatment options can help manage its symptoms.

• Supplementation with Pyridoxine and Folinic Acid: A study published in 2023 reported a case of an HPMRS patient who showed significant improvement after supplementation with pyridoxine (vitamin B6) and folinic acid. This treatment led to normalization of biochemical abnormalities, and the patient continued to make developmental progress [4].
• Management of Seizures: Seizures are a common symptom in individuals with HPMRS4. Anticonvulsant medications may be prescribed to manage seizures and prevent further episodes.
• Speech and Language Therapy: Individuals with HPMRS4 often experience delayed or absent speech acquisition. Speech and language therapy can help improve communication skills and enhance quality of life.
• Physical Therapy: Physical therapy can aid in improving motor skills, balance, and coordination in individuals with HPMRS4.

It is essential to note that each individual with HPMRS4 may respond differently to these treatment options. A multidisciplinary team of healthcare professionals, including geneticists, neurologists, and specialists in speech and language therapy, should be involved in developing a comprehensive treatment plan tailored to the patient's specific needs.

References:

[4] M Messina · 2023 · Cited by 7 — This article describes a new case of an HPMRS patient providing novel insights into symptomatology and disease management with pyridoxine and folinic acid [Context #4]

Please let me know if you need further clarification or would like to ask another question.

Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 (HPMRS4) is a rare autosomal recessive neurologic disorder characterized by hyperphosphatasia and intellectual disability [5]. When considering the differential diagnosis for HPMRS4, several conditions should be taken into account.

• PGAP3-CDG: Also known as Mabry syndrome, this condition shares similar clinical features with HPMRS4, including intellectual disability and elevated serum alkaline phosphatase levels [6].
• PIGL deficiency: A genetic disorder that affects the glycosylation process, leading to symptoms such as intellectual disability, seizures, and elevated serum alkaline phosphatase levels [9]. PIGL should be considered in the differential diagnosis of HPMRS4.
• Hereditary hyperphosphatasia: A rare genetic bone disorder characterized by elevated serum alkaline phosphatase levels, which can be a feature of HPMRS4. However, hereditary hyperphosphatasia typically presents with distinct skeletal abnormalities [10].
• Other conditions: Such as PIGV, PIGO, and PIGW deficiencies, which also affect the glycosylation process and may present with similar symptoms to HPMRS4.

A comprehensive diagnostic evaluation is necessary to accurately diagnose HPMRS4 and rule out other potential causes of hyperphosphatasia and intellectual disability.