It is important to note that exceptions may also occur, where individuals with small amount of chromosomal loss, may have disproportionately severe presentations. [dovemed.com]

• Epilepsy

  National Center for Advancing Translational Sciences Summary 5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. [rarediseases.info.nih.gov]

  Recurrent seizures (epilepsy) and seizure-like episodes (which can include muscle jerking, twitching, and stiffening), are common in 5q31.3 microdeletion syndrome. [medlineplus.gov]

• Disability

  National Center for Advancing Translational Sciences Summary 5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. [rarediseases.info.nih.gov]

  Any alteration in the chromosome numbers or structure, such as via addition or deletion of chromosomal material, can result in mild to severe genetic abnormalities that may manifest as birth defects, growth delays, and intellectual disabilities. [dovemed.com]

• Short Stature

  stature Low muscle tone (hypotonia) affecting fine motor skills is noted to be usually severe with early-onset Feeding difficulties, including gastroesophageal reflux disease (GERD) Constipation may be commonly noted Mobility issues - children may have [dovemed.com]

• Failure to Thrive

  […] to thrive Severe brain anomalies resulting in brain dysfunction from: Agenesis of the corpus callosum Cerebral atrophy Colpocephaly Cortical dysplasia Delayed myelination Enlarged ventricles Leukoencephalopathy Periventricular heterotopia/leukomalacia [dovemed.com]

• Short Nose

  Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, upslanted palpebral fissures (outside corners of the eyes that point [rarediseases.info.nih.gov]

Specialists may also be involved in developing a treatment and management plan. [rarediseases.info.nih.gov]

and in some cases, due to treatment also. [dovemed.com]

What is the Prognosis of Chromosome 5q14.3 Deletion Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 5q14.3 Deletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

(Etiology) Chromosome 5q14.3 Deletion Syndrome is caused by a deletion of genetic material in the long arm (q) of chromosome 5. [dovemed.com]

How can Chromosome 5q14.3 Deletion Syndrome be Prevented? Chromosome 5q14.3 Deletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]