(Age and Sex Distribution) The incidence of Chromosome 2q23.1 Microdeletion Syndrome is presently unknown. [dovemed.com]

In this study, we demonstrate that MBD5 is the only gene in common among all duplication cases and that overexpression of MBD5 is likely responsible for the core clinical features present in 2q23.1 microduplication syndrome. [ohsu.pure.elsevier.com]

• Foot Deformity

  deformities; joint laxity Unsteady gait and balance issues are noted Vision impairment is usually mild; children may present strabismus, astigmatism, and optic nerve hypoplasia Hearing impairment is also mild and may include glue ear Heart defects are [dovemed.com]

• Short Attention Span

  attention span; short stature; seizures; ataxia; feeding difficulties; infantile hypotonia; constipation; craniofacial manifestations: 15% microcephaly, midface hypoplasia, wide mouth, tented upper lip, open mouth, small chin, dental anomalies; optic [coriell.org]

  attention span self-injurious behavior repetitive behavior aggression autistic-like symptoms* have a slow growth curve develop short stature as they age microcephaly, or small head circumference have difficulty walking a broad-based gait Children may [2q23.org]

• Low Self-Esteem

  self-esteem Behavioral issues If scoliosis is present, then it may result in back pain, damage to lungs and heart, etc. [dovemed.com]

• Inappropriate Laughter

  Hyperactivity Hyperactive behavior Inappropriate laughter Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. [rarediseases.oscar.ncsu.edu]

Risk of falls and injuries in affected individuals with seizures Kidney reflux Severe heart anomalies Intellectual impairment (low IQ levels) Reduced quality of life Complications may occur with or without treatment, and in some cases, due to treatment [dovemed.com]

Treatment is based on the signs and symptoms of each person and may include seizure medication, speech therapy, behavior therapy, physical, and occupational therapy, and special education programs.[12134][12135][12136] For more information, visit GARD [rarediseases.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

What is the Prognosis of Chromosome 2q23.1 Microdeletion Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 2q23.1 Microdeletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. [ohsu.pure.elsevier.com]

[…] of 2q23.1 microdeletion syndrome and that this epigenetic regulator significantly contributes to ASD risk, warranting further consideration in research and clinical diagnostic screening and highlighting the importance of chromatin remodeling in the etiology [mendeley.com]

(Etiology) Chromosome 2q23.1 Microdeletion Syndrome is caused by a deletion of genetic material in the long arm of chromosome 2. [dovemed.com]

Deletion CpG Clusters Epigenesis, Genetic Related Feeds Autism: Treatment Targets The absence of effective treatments for autism are due to the high clinical and genetic heterogeneity between affected individuals, restricted knowledge of the underlying pathophysiological [meta.org]

How can Chromosome 2q23.1 Microdeletion Syndrome be Prevented? Chromosome 2q23.1 Microdeletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]

These random events cannot be prevented and could happen to any pregnancy. [2q23.org]