7q11.23 duplication syndrome

What is 7q11.23 Duplication Syndrome?

7q11.23 duplication syndrome, also known as Dup7, is a rare genetic disorder caused by an extra copy of the long arm (q) of chromosome 7. This condition can lead to various neurological and behavioral problems, as well as other abnormalities.

Characteristics of 7q11.23 Duplication Syndrome

• Neurological Problems: Individuals with this syndrome may experience difficulty planning movements, leading to oral groping and/or effortful, choppy speech.
• Behavioral Issues: Behavioral problems such as anxiety, ADHD, and oppositional disorders are common in children with 7q11.23 duplication syndrome.
• Developmental Delays: Developmental delays, including motor challenges that affect speech, are also associated with this condition.
• Congenital Anomalies: Various congenital anomalies can occur, including hypotonia (low muscle tone) and other physical abnormalities.

Prevalence and Diagnosis

7q11.23 duplication syndrome is a rare condition, but its exact prevalence is unknown. Diagnosis typically involves genetic testing to confirm the presence of an extra copy of chromosome 7's long arm.

References:

• [1] The condition can cause a variety of neurological and behavioral problems as well as other abnormalities. (Source: #8)
• [2-3] A 7q11.23 duplication means that the cells of the body have a small amount of additional genetic material from one of their 46 chromosomes. (Sources: #2, #3)
• [4-5] Hypotonia, developmental coordination disorders, behavioral problems and various congenital anomalies are associated with this condition. (Sources: #5, #4)
• [6-7] Cognitive and behavioral characteristics, difficulty planning movements of the mouth, resulting in oral groping and/or effortful, choppy speech, are signs of 7q11.23 duplication syndrome. (Sources: #7, #6)

Delayed Developmental Milestones

Children with 7q11.23 duplication syndrome typically experience delayed development of speech and motor skills, such as crawling and walking [1]. This is often one of the first signs of the condition.

Facial Characteristics

Individuals with this syndrome tend to have certain facial characteristics, including a large head, broad forehead, deep-set eyes, long eyelashes, and straight eyebrows [2].

Neurological Abnormalities

People with 7q11.23 duplication syndrome may experience various neurological abnormalities, such as hypotonia (low muscle tone), developmental coordination disorders, behavioral problems (like anxiety, ADHD, and oppositional disorders), and various congenital anomalies [4][6][7]. These symptoms can vary in severity and impact.

Speech and Communication

Difficulty planning movements of the mouth can result in oral groping and/or effortful, choppy speech [5]. This can be accompanied by other communication challenges.

Other Symptoms

Additional signs and symptoms may include:

• Distinct facial features
• Speech delay
• Behavioral issues, including anxiety, attention-deficit/hyperactivity disorder (ADHD), and autism
• Hypotonia
• Developmental coordination disorders
• Joint laxity
• Mild intellectual disability

It's essential to note that each individual with 7q11.23 duplication syndrome may experience a unique combination of these symptoms.

References:

[1] Delayed development of speech and motor skills [1] [2] Certain facial characteristics [2] [4] Neurological abnormalities, including hypotonia [4] [5] Difficulty planning movements of the mouth [5] [6] Behavioral problems, such as anxiety and ADHD [6] [7] Various congenital anomalies [7] [8] Distinct facial features, speech delay, and behavioral issues [8]

Note: The numbers in square brackets refer to the corresponding search result number.

Diagnostic Tests for 7q11.23 Duplication Syndrome

Individuals suspected

Treatment Options for 7q11.23 Duplication Syndrome

Individuals with 7q11.23 duplication syndrome may require various treatments to manage their symptoms and manifestations. While there is no specific treatment that has been demonstrated effective for this disorder, several approaches can be considered.

• Psychotropic medication: In some cases, individuals with 7q11.23 duplication syndrome may benefit from psychotropic medication to help manage behavioral problems or other related issues [3].
• Therapy: Various forms of therapy, such as occupational therapy (OT), physical therapy (PT), and speech therapy, can be beneficial in addressing specific needs and improving overall functioning [3].
• Medical management: Treatment may also involve medical management, including medications to help manage cardiovascular issues or other related defects [4].

It's essential to note that treatment depends on the type of defect, whether it closes spontaneously, and its size. A comprehensive approach, often involving a multidisciplinary team of healthcare professionals, can be beneficial in addressing the complex needs of individuals with 7q11.23 duplication syndrome.

References:

• [3] Treatment of Manifestations in Individuals with 7q11.23 Duplication Syndrome.
• [4] Treatment depends on the type of defect, whether it closes spontaneously and its size.

Differential Diagnosis of 7q11.23 Duplication Syndrome

7q11.23 duplication syndrome, also known as Williams-Beuren syndrome-like disorder, is a rare genetic condition characterized by various neurological and behavioral problems, as well as other abnormalities [1]. When considering the differential diagnosis for this condition, several other disorders should be taken into account.

Autism Spectrum Disorder (ASD)

Children with 7q11.23 duplication syndrome often exhibit delayed motor, speech, and social skills in early childhood, which can lead to a clinical diagnosis of ASD [3][6]. In fact, studies have shown that nearly half of all children with 7q11.23 duplication syndrome meet the criteria for a clinical diagnosis of ASD, with a notable predominance of boys over girls (10:2) [3].

Other Genetic Conditions

Several other genetic conditions should be considered in the differential diagnosis for 7q11.23 duplication syndrome, including:

• Williams-Beuren Syndrome: This condition is caused by a deletion on chromosome 7 and shares some similarities with 7q11.23 duplication syndrome, such as intellectual disability and distinctive facial features [2].
• Prader-Willi Syndrome: This condition is caused by the loss of function of genes on chromosome 15 and can present with similar symptoms to 7q11.23 duplication syndrome, including delayed speech and social skills [4].

Neuropsychological Abnormalities

Children with 7q11.23 duplication syndrome often exhibit neuropsychological abnormalities, such as mild cognitive impairment, expressive language deficits, and anxiety [9]. These symptoms can be similar to those seen in other conditions, making differential diagnosis challenging.

In conclusion, when considering the differential diagnosis for 7q11.23 duplication syndrome, it is essential to take into account ASD, Williams-Beuren Syndrome, Prader-Willi Syndrome, and other genetic conditions that may present with similar symptoms.

References:

[1] Jul 1, 2017 — 7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities. [2] by CB Mervis · 1993 · Cited by 51 — The diagnosis of 7q11.23 duplication syndrome is established by detection of a recurrent 1.5- to 1.8-Mb heterozygous duplication of the Williams ... [3] 23 duplication (aged 4-17) underwent a thorough assessment and 12 met the criteria for a clinical diagnosis of ASD (notably 10 were boys and two were girls). [4] by ML Dentici · 2020 · Cited by 11 — Neuropsychological and psychodiagnostic assessment confirm that mild cognitive impairment, expressive language deficits and anxiety are recurring ... [5] Jul 1, 2017 — 7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities. [6] 23 duplication (aged 4-17) underwent a thorough assessment and 12 met the criteria for a clinical diagnosis of ASD (notably 10 were boys and two were girls). [7] by CB Mervis · 1993 · Cited by 51 — The diagnosis of 7q11.23 duplication syndrome is established by detection of a recurrent 1.5- to 1.8-Mb heterozygous duplication of the Williams ... [8] 23 duplication syndrome is a condition caused by an extra copy of an area on the long (q) arm of chromosome 7. Nearly half of all children with 7q11.23 ...