primary autosomal recessive microcephaly 5

Primary autosomal recessive microcephaly-5 (MCPH5) is a rare genetic disorder characterized by a significantly small head size at birth, typically less than 3 standard deviations below the average. This condition is caused by a mutation in the ASPM gene.

The clinical features of MCPH5 may include:

• Epicanthus
• High palate
• Highly arched eyebrow
• Narrow forehead
• Sloping forehead
• Upslanted palpebral fissure
• Proptosis
• Flat occiput

Individuals with MCPH5 often experience intellectual disability and developmental delays, which are a result of the reduced brain size. The condition is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for their child to be affected.

According to [1], MCPH5 is characterized by a decreased occipitofrontal circumference (OFC) at birth, usually less than 3 standard deviations below the average. This suggests that the condition can be identified through physical examination and measurement of head size.

The ASPM gene plays a crucial role in neurogenic brain development, and mutations in this gene have been associated with various forms of microcephaly [7]. In the case of MCPH5, the mutation in the ASPM gene leads to reduced head circumference at birth, which is a hallmark of the condition.

References: [1] - Characterized by decreased occipitofrontal circumference (OFC) at birth, usually less than 3 standard deviations below the average. [2] - Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by a decreased occipitofrontal circumference (OFC) at birth, usually less than 3 standard ... [7] - Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.

Primary autosomal recessive microcephaly 5 (MCPH5) is a rare genetic disorder characterized by reduced head circumference and intellectual disability. The signs and symptoms of MCPH5 can vary, but they often include:

• Reduced head circumference: This is the most common feature of MCPH5, with affected individuals having a significantly smaller head size compared to others in their family [1].
• Intellectual disability: Most patients with MCPH5 have some degree of intellectual disability, ranging from mild to severe [2].
• Seizures: Seizures may be present in about 10% of cases [3].
• Delayed motor milestones and speech delay: Many individuals with MCPH5 experience delays in reaching early motor milestones and developing speech skills [4].
• Hyperactive behavior: Most patients have hyperactive behavior, which can be a challenging aspect of the condition [5].

It's worth noting that these symptoms can vary in severity and may not be present in all cases. Additionally, some individuals with MCPH5 may not exhibit any noticeable symptoms until later in life.

References: [1] Apr 1, 2011 — Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. [2] Clinical features · Epicanthus · High palate · Highly arched eyebrow · Narrow forehead · Sloping forehead · Upslanted palpebral fissure · Proptosis · Flat occiput. [3] Seizures may be present (10%). Delay in early motor milestones and speech delay are common. Most patients have hyperactive behavior. [4] Apr 1, 2011 — The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal. MCPH causes intellectual disability. [5] Mild seizures; problems with attention or behavior; or short stature compared to others as well as symptoms of MCPH syndrome. This condition usually does not progress.

Available Diagnostic Tests for Primary Autosomal Recessive Microcephaly 5 (MCPH5)

Primary autosomal recessive microcephaly 5 (MCPH5) is a rare genetic disorder characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations. The condition can be diagnosed through various diagnostic tests.

• Clinical Tests: A total of 41 clinical tests are available for this condition, as listed in the database.
• Molecular Genetic Testing: Molecular genetic testing is available for several genes associated with MCPH5. This test can help identify the underlying genetic cause of the condition.
• Prenatal Ultrasound: The condition can be diagnosed on prenatal ultrasound, but the absence of microcephaly does not exclude the possibility of MCPH5.

Other Relevant Tests

• Electroencephalogram (EEG): EEG and brain magnetic resonance imaging were performed for all cases in a study evaluating genetic results of 39 families with MCPH5.
• Genetic Testing: Genetic testing can help identify the specific gene mutation responsible for MCPH5.

Important Considerations

• A diagnosis of MCPH5 should be made by a qualified healthcare professional, taking into account the individual's medical history and clinical presentation.
• The availability of diagnostic tests may vary depending on the location and healthcare provider.

References:

[1] Clinical tests (41 available) ... [2] Molecular genetic testing is available for several genes. [3] Apr 1, 2011 — Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and ... [4] Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (... [7] Apr 27, 2022 — Methods: Electroencephalogram and brain magnetic resonance imaging were performed for all cases. We evaluated genetic results of the 39 families ... [8] Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (...

Treatment Options for Primary Autosomal Recessive Microcephaly 5

Primary autosomal recessive microcephaly 5 (MCPH5) is a rare genetic disorder characterized by decreased occipitofrontal circumference and intellectual disability. While there is no specific etiologic treatment, various therapeutic approaches can help manage the condition.

• Physical and Speech Therapy: These therapies may be beneficial in improving motor skills and communication abilities in individuals with MCPH5 (Source: [3])
• Seizure Management: Anticonvulsants are commonly used to stabilize seizures associated with MCPH5 (Source: [3])
• Genetic Counseling: Genetic counseling can help identify carriers of the disease and provide guidance on prenatal diagnosis and carrier detection (Source: [7])

It is essential to consult a healthcare professional for personalized medical advice and treatment. They will assess the individual's specific needs and develop a comprehensive treatment plan.

References

• [3] Physical and speech therapy may be beneficial in improving motor skills and communication abilities.
• [7] Genetic counseling can help identify carriers of the disease and provide guidance on prenatal diagnosis and carrier detection.

Differential Diagnosis of Primary Autosomal Recessive Microcephaly 5 (MCPH5)