neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

Neurodevelopmental Disorder with Dysmorphic Facies and Thin Corpus Callosum (NEDDFAC)

NEDDFAC is a rare genetic disorder characterized by several distinct features. The condition is associated with:

• Global developmental delay: Individuals with NEDDFAC often experience significant delays in their physical, cognitive, and emotional development.
• Impaired intellectual development: People with this disorder may have impaired intellectual development, which can manifest as poor or absent speech and language skills.
• Dysmorphic facial features: NEDDFAC is characterized by distinctive facial abnormalities, including dysmorphic facies (abnormal facial features).
• Thin corpus callosum: The condition is also associated with a thin corpus callosum, which is the thick band of nerve fibers that connects the two hemispheres of the brain.

These features can vary in severity and may be accompanied by other symptoms such as seizures, growth retardation, and intellectual disability. NEDDFAC is an autosomal dominant disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition.

References:

• [1] Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) is characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and dysmorphic facial features. (Source: Search result 2)
• [3-4] An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and dysmorphic facial features. (Sources: Search results 3 and 4)
• [5] Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum. Term ID: DOID:0070469; Synonyms. NEDDFAC. Definition: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and dysmorphic facial features. (Source: Search result 5)
• [6] ...characterized by global developmental delay, severe intellectual disability, poor language, seizures, dysmorphic features, and thin corpus callosum. (Source: Search result 6)

Based on the search results, here are the signs and symptoms of neurodevelopmental disorder with dysmorphic facies and thin corpus callosum:

• Global developmental delay [1, 2, 5]
• Impaired intellectual development with poor or absent speech and language [1, 2, 5]
• Dysmorphic facial features [1, 2, 3, 7, 13]
• Thin corpus callosum [1, 2, 4, 6, 8, 10, 11, 12, 14]
• Decreased white matter volume [1, 2]
• Seizures [5, 7, 9, 10, 14]
• Cardiac defects [3, 4, 14]
• Behavioral abnormalities [5, 7, 13]
• Hypotonia [3, 4]
• Spasticity [4]
• Poor or absent speech [4, 5, 12]
• Delayed walking [4, 10]

It's worth noting that the phenotype is variable, and more severely affected individuals may have additional anomalies such as microcephaly, delayed myelination, and cortical atrophy.

Based on the search results, it appears that there are several diagnostic tests that can be used to identify a neurodevelopmental disorder characterized by dysmorphic facies and a thin corpus callosum.

• Chromosomal microarray: This test can help identify chromosomal abnormalities that may be

Based on the search results, it appears that there are limited treatment options available for neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC). However, some potential treatments and management strategies can be considered.

• Developmental and educational support: This is a crucial aspect of managing NEDDFAC. Children with this condition may require specialized education and therapy to address their developmental delays and intellectual disabilities [1].
• Feeding therapy: Some individuals with NEDDFAC may experience feeding difficulties, which can be addressed through feeding therapy [4].
• Gastrostomy tube placement: In some cases, gastrostomy tube placement may be necessary for persistent feeding difficulties [4].

It's essential to note that these treatment options are not specific to NEDDFAC and may be applicable to other neurodevelopmental disorders as well.

Regarding drug treatment specifically, there is limited information available in the search results. However, it's possible that some individuals with NEDDFAC may require medications to manage associated symptoms such as seizures or behavioral issues [10].

In general, a multidisciplinary approach involving healthcare professionals from various specialties (e.g., neurology, psychology, occupational therapy) can provide comprehensive care for individuals with NEDDFAC.

References:

[1] - Search result 4 [4] - Search result 4 [10] - Search result 10

Based on the search results, it appears that there are several neurodevelopmental disorders associated with dysmorphic facial features and a thin corpus callosum.

• NEDDFAC (1) is characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and dysmorphic facial features. However