NRCAM-related neurodevelopmental disorder is a rare genetic condition that affects brain development and can have different clinical features between affected individuals.
Common signs and symptoms include:
• Poor growth and difficulty gaining weight
• Small head
• Unusual facial features, such as a large forehead, narrow temples, small jaw, and high-arched roof of the mouth
• Hearing and vision problems, which can include things like cataracts, lazy eye, or retinal issues
• Breathing problems in newborns
• Feeding difficulties
• Undescended testicles in boys
• Bone and joint issues, such as curved spine, hip problems, joint stiffness, or unusual finger/foot shapes
• Developmental delays and learning difficulties, seen in most patients
• Weak muscle tone (hypotonia)
• Movement problems, like poor balance (ataxia), stiff or tight muscles (spasticity), or reduced reflexes
• Brain changes seen on scans in some patients, like delayed brain development or abnormal brain structure
• In some cases, nerve problems affecting movement and feeling
• Behavioral issues, such as aggression, irritability, or self-harm