primary autosomal recessive microcephaly 12

Primary autosomal recessive microcephaly 12 (MCPH12) is a rare genetic disorder characterized by a significantly reduced head circumference, with the brain weight and volume being proportionally smaller than normal. This condition is present at birth and is associated with nonprogressive mental retardation.

Individuals with MCPH12 may have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family [1][3]. The reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals [5].

Autosomal recessive primary microcephaly (MCPH) is the prototype of isolated primary (congenital) microcephaly, affecting predominantly the cerebral cortex [6]. MCPH is a neurodevelopmental disorder characterized by two principal features: microcephaly present at birth and nonprogressive mental retardation [9].

The abnormality of the cerebral cortex in individuals with MCPH12 is often associated with congenital microcephaly, featuring fewer gyri but with normal cortical thickness [3]. This condition is caused by a homozygous mutation in the gene responsible for autosomal recessive primary microcephaly-12 (MCPH12) [4].

References: [1] Context 1: Apr 1, 2011 — MCPH, which stands for microcephaly primary hereditary, is a condition in which infants are born with a very small head and a small brain. [3] Context 2: An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. [4] Context 2: A number sign (#) is used with this entry because of evidence that autosomal recessive primary microcephaly-12 (MCPH12) is caused by homozygous mutation in the ... [5] Context 1: Apr 1, 2011 — The reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals. Learn ... [6] Context 2: by S Zaqout · 2022 · Cited by 38 — Autosomal recessive primary microcephaly (MCPH) is the prototype of isolated primary (congenital) microcephaly, affecting predominantly the cerebral cortex. [9] Context 3: by CG Woods · 2005 · Cited by 536 — MCPH is a neurodevelopmental disorder. It is characterized by two principal features, microcephaly present at birth and nonprogressive mental retardation.

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].
• Some individuals with MCPH may have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family [1].
• Delayed speech and language development, global developmental delay, and hyperactive behavior are also common symptoms of MCPH [3].
• The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal in individuals with MCPH [4].
• 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 beyond infancy [7].

It's worth noting that the provided context also mentions additional clinical features such as short stature or mild seizures, but these are not specific to primary autosomal recessive microcephaly and may be present in other conditions as well [9].

Based on the provided context, here are some diagnostic tests for primary autosomal recessive microcephaly:

• Molecular genetic testing: This is available for several genes associated with microcephaly, including MCPH1 (8p23.1), STIL (1p33), and WDR62 (7q11.21) [12][14].
• Clinical tests: There are 10 clinical tests available in the database for this condition, which can be used to diagnose and monitor microcephaly [10].
• Prenatal ultrasound: This can be used to diagnose microcephaly in utero, although the absence of microcephaly on prenatal ultrasound does not exclude the possibility of the condition [11].

It's worth noting that a definitive diagnosis of primary autosomal recessive microcephaly typically involves a combination of clinical evaluation, genetic testing, and imaging studies.

References:

[10] - Clinical tests (10 available) for microcephaly [11] - Prenatal ultrasound for diagnosing microcephaly [12] - Molecular genetic testing for MCPH1 gene [14] - Genetic testing for STIL and WDR62 genes

Treatment Options for Primary Autosomal Recessive Microcephaly

Primary autosomal recessive microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference. While there is no specific treatment to reverse the condition, various management strategies can help alleviate symptoms and improve quality of life.

• Symptomatic care: Treatment for MCPH focuses on managing associated symptoms, such as seizures, developmental delays, and speech difficulties. A multidisciplinary team, including a pediatric neurologist, developmental pediatrician, and speech-language pathologist, often provides comprehensive care.
• Anticonvulsants: Seizures are usually stabilized with common anticonvulsants, which can help control seizure frequency and severity [1].
• Physical and speech therapy: Physical and speech therapy may be beneficial in addressing motor and communication skills deficits associated with MCPH [2].

It is essential to note that there is no treatment available to return the baby's head to a normal size or shape. Microcephaly is a lifelong condition that has no cure [3][4]. However, early intervention and comprehensive care can significantly improve outcomes and enhance the child's quality of life.

References: [1] - 5 [2] - 4 [3] - 6 [4] - 9

Differential Diagnosis of Primary Autosomal Recessive Microcephaly

Primary autosomal recessive microcephaly (MCPH) is a neurodevelopmental disorder characterized by two principal features: microcephaly present at birth and nonprogressive mental retardation. When diagnosing MCPH, it's essential to consider differential diagnoses that can mimic or co-occur with this condition.

Key Differential Diagnoses:

• Seckel Syndrome: A rare genetic disorder that presents with microcephaly, intellectual disability, and characteristic facial features.
• Microcephalic Primordial Dwarfism: A group of disorders characterized by severe microcephaly, short stature, and intellectual disability.
• Other Genetic Disorders: Such as primordial dwarfism, megalencephalic leukodystrophy, and other rare genetic conditions that can present with microcephaly.

Diagnostic Approaches:

1. Prenatal Ultrasound: Can diagnose MCPH in utero, but absence of microcephaly does not exclude the diagnosis.
2. Neuroimaging: Ultrasound and/or MRI