Brachydactyly-Intellectual Disability

Brachydactyly-Intellectual Disability

Article
Brain & Nerve
Bone, Muscle, & Joint
+5
Contributed byKrish Tangella MD, MBAApr 15, 2018

The topic Brachydactyly-Intellectual Disability you are seeking is a synonym, or alternative name, or is closely related to the medical condition 2q37 Deletion Syndrome.

Quick Summary:

  • 2q37 Deletion Syndrome is a rare genetic disorder that can affect many body parts. The disorder is known to be caused by a deletion of genetic material - from a specific locus (37) of the long arm (q) of chromosome 2
  • The deletion may occur spontaneously, or can be due to genetic phenomena such as unbalanced translocation and chromosome ring formation. Additionally, scientists believe that mutations in the HDAC4 gene, which codes for a histone deacteylase enzyme, may be responsible for this syndrome
  • There are currently no risk factors associated with 2q37 Deletion Syndrome. In a small percentage though, a family history of this condition is observed to be a risk factor. The condition is manifested at birth
  • Some of the main signs and symptoms of 2q37 Deletion Syndrome include facial abnormalities, low muscle tone, feeding difficulties in newborns, congenital abnormalities in the heart and kidneys, problems with proper growth and development, intellectual disability, and autism spectrum disorders (ASD). The syndrome can lead to potential complications including seizures, heart defects, kidney malfunction, and short stature
  • The management of the various symptoms associated with 2q37 Deletion Syndrome may require the concerted effort by a team of healthcare specialists; with treatment being provided throughout the life of the affected individual
  • However, with prompt and continued care, the life span of an individual with this syndrome is reportedly not affected. However, the prognosis of 2q37 Deletion Syndrome depends upon the severity of the signs and symptoms; mild cases have better prognosis than individuals with severe conditions

Please find comprehensive information on 2q37 Deletion Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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