(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]

• Weakness

  These tend to include: developmental delay and/or regression motor delay, balance concerns language impairment muscle weakness infantile feeding difficulties seizures (seen to develop in nearly 100% of cases) behavioral problems sleep disturbances short [2q23.org]

  […] typical 0000752 Malar flattening Zygomatic flattening 0000272 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or weak [rarediseases.info.nih.gov]

• Fishing

  In such cases, FISH or array-CGH studies may be necessary to detect the deletions It is important to note that a child’s development and future is not only influenced by the chromosome material duplicated/deleted and genes involved, but also by other [dovemed.com]

  […] chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb).[1][2] Detection is done by fluorescence in situ hybridization (FISH [en.wikipedia.org]

• Underweight

  The potential complications of Chromosome 2q23.1 Microdeletion Syndrome may include: Severe emotional stress for parents and caregivers Pregnancy complications may include preterm birth and underweight baby at birth Intrauterine growth retardation (IUGR [dovemed.com]

• Widely Spaced Teeth

  […] small teeth widely spaced teeth or other dental abnormalities a mouth that stays more in an open position when at rest thick or everted lower lip downturned corners of the mouth a wide mouth large tongue a shorter chin small ears and other outer ear [2q23.org]

  The signs and symptoms of 2q23.1 Microdeletion Syndrome may vary from one individual to another and may include: Abnormal facial features that include: Small-sized head Thick, arched eyebrows Large or small nose Widely-spaced teeth Thin upper lip with [dovemed.com]

• Hirsutism

  Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Coarse facial features Coarse facial appearance 0000280 Constipation 0002019 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Generalized hirsutism [rarediseases.info.nih.gov]

• 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]

• Delayed Speech and Language Development

  Delayed speech development, Speech delay, Language delay, Speech difficulties, Delayed speech, Delayed speech acquisition, Late-onset speech development, Speech and language delay, Delayed language development [more] A degree of language development [rarediseases.oscar.ncsu.edu]

  speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language [rarediseases.info.nih.gov]

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]

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]