Presentation
In the parent, if all of the material is present, it is balanced and thus is usually harmless to the carrier. [rarediseases.org]
Entire Body System
- Atrial Septal Defect
defects) and/ or an abnormal opening in the fibrous partition that separates the lower chambers of the heart called a VSD (ventral septal defects). [rarediseases.org]
- Arachnodactyly
These may include abnormally long, slender fingers (arachnodactyly); short first toes; or deformities in which the feet are abnormally twisted out of position or shape (clubfeet). [rarediseases.org]
Jaw & Teeth
- Macroglossia
There may be a large tongue (macroglossia). There may be flattening of the cheek area (midface hyperplasia). Individuals are noted to have a short neck. [rarediseases.org]
Skin
- Eczema
Several children have been reported with dry skin or eczema. There are also characteristic abnormalities of the hands and feet. [rarediseases.org]
Neurologic
- Seizure
Abnormal episodes of uncontrolled electrical activity in the brain (seizures) are frequently reported and the seizures may require multiple medications. [rarediseases.org]
Treatment
Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child’s treatment. [rarediseases.org]
Prevention
Treatment may also include measures to help prevent or aggressively treat respiratory infections. Other treatment is symptomatic and supportive. Early intervention is important to ensure that children with trisomy 5p reach their potential. [rarediseases.org]