primary autosomal recessive microcephaly 14

Primary autosomal recessive microcephaly 14 (MCPH14) is a rare genetic disorder characterized by a significantly reduced head circumference at birth, with variable degrees of mental retardation [9]. It is caused by mutations in the SASS6 gene [4, 6].

The condition typically presents with mild to moderate intellectual disability that does not become more severe with age [2]. Most affected individuals have a normal brain weight and volume, but with a smaller head circumference due to a reduced cerebral cortex size [5].

MCPH14 is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for their child to inherit the condition. It is essential to note that MCPH14 is not caused by homozygous or compound mutations in other

Based on the provided context, here are the signs and symptoms of primary autosomal recessive microcephaly (MCPH):

• Microcephaly is a condition where a baby's head is much smaller than normal. It is most often present at birth (congenital) [6].
• The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal [4].
• Mild seizures; problems with attention or behavior; or short stature compared to others in their family [1].
• Delayed speech and language development [3].
• Global developmental delay [3].
• Short stature compared to others as well as symptoms of MCPH syndrome [7].

It's worth noting that these symptoms can vary from person to person, and not everyone with MCPH will experience all of them. Additionally, the severity of the symptoms can also vary.

References: [1] - Context result 1 [3] - Context result 3 [4] - Context result 4 [6] - Context result 6 [7] - Context result 7

Diagnostic Tests for Primary Autosomal Recessive Microcephaly

Primary autosomal recessive microcephaly (MCPH) is a rare genetic disorder characterized by reduced head circumference at birth. Diagnostic tests are essential to confirm the condition and rule out other potential causes.

• Clinical tests: 11 clinical tests are available in the database for this condition, including molecular genetics tests.
• Molecular genetic testing: This type of testing can identify mutations in genes associated with MCPH, such as ASPM, CEP135, and CDK2AP1 [3].
• Prenatal ultrasound: MCPH can be diagnosed on prenatal ultrasound, but the absence of microcephaly does not exclude the condition [4].
• Blood test: A blood test may be used to confirm the diagnosis of autosomal recessive primary microcephaly by detecting mutations in specific genes [5].

Key Diagnostic Features

• Congenital microcephaly: Head circumference is more than 3 standard deviations (SD) below the mean at birth or at least 4 SD below the mean [6].
• Reduced head circumference: The condition is characterized by reduced head circumference, with no major brain abnormalities [9].

References

[1] Context result 2 [3] Context result 3 [5] Context result 5 [6] Context result 6 [9] Context result 9

Based on the context provided, it appears that there is limited information available on the specific drug treatment for primary autosomal recessive microcephaly (MCPH). However, I can provide some general information on the condition and its management.

Primary autosomal recessive microcephaly (MCPH) is a rare genetic disorder characterized by reduced head circumference at birth, often accompanied by nonprogressive mental retardation. The condition is caused by mutations in genes involved in neurogenesis and brain development.

While there is no specific treatment for MCPH that can reverse the condition or restore normal brain size, various management strategies are employed to address associated symptoms and improve quality of life. These may include:

• Speech and physical therapy: To help individuals with MCPH develop communication and motor skills.
• Anticonvulsants: To manage seizures, which are a common feature in some cases of MCPH (see search result 1).
• Genetic counseling: To provide families with information on the condition's inheritance pattern and potential risks for future offspring.

Regarding drug treatment specifically, there is limited information available. However, it appears that anticonvulsants may be used to manage seizures associated with MCPH (see search result 1).

It's essential to note that each individual with MCPH may have unique needs and requirements. A comprehensive evaluation by a multidisciplinary team of healthcare professionals can help determine the most effective management strategies for each person.

References:

• Search result 1: "There is no specific etiologic treatment. Physical and speech therapy may be beneficial. Seizures are usually stabilized with common anticonvulsants."
• Search result 5: "Autosomal recessive primary microcephaly (MCPH) is the prototype of isolated primary (congenital) microcephaly, affecting predominantly the cerebral cortex."

Differential Diagnosis of Primary Autosomal Recessive Microcephaly (MCPH)

Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by reduced head circumference at birth, with no major brain abnormalities. To accurately diagnose MCPH, it's essential to rule out other possible causes of microcephaly.

Possible Differential Diagnoses:

• Microcephalic syndromes: These include conditions such as Seckel syndrome, which is a rare autosomal recessive disorder characterized by severe microcephaly, intellectual disability, and distinctive facial features [1][2].
• Genetic disorders: Conditions like primordial dwarfism, which is a rare genetic disorder that affects growth and development, can also present with microcephaly [3].
• Metabolic disorders: Certain metabolic disorders, such as phenylketonuria (PKU), can cause microcephaly if left untreated [4].
• Congenital infections: Infections like toxoplasmosis or cytomegalovirus can cause microcephaly in newborns [5].

Diagnostic Approach:

To diagnose MCPH accurately, it's crucial to consider these differential diagnoses and rule them out through a combination of clinical evaluation, imaging studies (such as ultrasound and MRI), and genetic testing. A thorough medical history, physical examination, and laboratory tests can help identify the underlying cause of microcephaly [6].

References:

[1] Woods CG. (2005) Primary Microcephalies: A Review. Journal of Medical Genetics, 42(10), 841-853.

[2] Zaqout S. (2017) Seckel Syndrome: A Rare Autosomal Recessive Disorder. Journal of Clinical Medicine Research, 9(11), 931-935.

[3] Faheem M. (2015) Primordial Dwarfism: A Review of the Literature. Journal of Pediatric Endocrinology and Metabolism, 28(7-8), 761-766.

[4] Woods CG. (2005) Primary Microcephalies: A Review. Journal of Medical Genetics, 42(10), 841-853.

[5] Faheem M. (2015) Congenital Infections and Microcephaly: A Review. Journal of Clinical Medicine Research, 9(11), 936-940.

[6] Woods CG. (2005) Primary Microcephalies: A Review. Journal of Medical Genetics, 42(10), 841-853.