Presentation
In some cases, eye (ocular) abnormalities may also be present, such as abnormal smallness of the eyes (microphthalmia) or absence or defects of ocular tissue (colobomata) involving the middle region of the eyes (uvea). [rarediseases.org]
Gastrointestinal
- Failure to Thrive
[…] to thrive Fetal growth restriction Growth delay Severe postnatal growth retardation Short stature Small for gestational age Neoplasm Hemangioma IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters [ncbi.nlm.nih.gov]
Face, Head & Neck
- Short Neck
Additional craniofacial abnormalities may be present, such as a prominent chin, a relatively large tongue (macroglossia), irregularities of the teeth, and a short neck. Trisomy 4p may also be characterized by abnormalities of the hands and feet. [rarediseases.org]
Neurologic
- Global Developmental Delay
Absent septum pellucidum Cavum septum pellucidum Corpus callosum, agenesis of EEG abnormality Global developmental delay Hydrocephalus Intellectual disability, severe Morphological central nervous system abnormality Motor stereotypy Periventricular cysts [ncbi.nlm.nih.gov]
Treatment
Standard Therapies Treatment The treatment of Chromosome 4, Trisomy 4p is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]
Prevention
Treatment may also include measures to help prevent or aggressively treat respiratory complications that may be associated with the disorder. Other treatment is symptomatic and supportive. [rarediseases.org]