Symptoms of DiGeorge Syndrome
Identifying DiGeorge syndrome can be challenging due to its impact on multiple body systems resulting from the deletion of up to 40 genes. However, there are several key signs and symptoms that can help with diagnosis. These include the presence of a heart murmur, frequent infections, a cleft palate, poor muscle tone, and delayed development. It is possible for medical professionals to detect these signs at birth, while in some cases, they may become more evident during infancy and early childhood.
Distinctive Facial Features of DiGeorge Syndrome
DiGeorge syndrome is often associated with distinct facial characteristics, although the severity of these features can vary among individuals. These facial characteristics may include:
- Small, square-shaped ears
- Cleft lip or palate, or both
- Small mouth and chin
- Hooded eyelids
- Asymmetric expression while crying
It is important to note that not all individuals with DiGeorge syndrome will exhibit all of these facial features, and the severity of the features can differ from person to person. These distinctive facial characteristics can aid in the diagnosis of DiGeorge syndrome and help healthcare professionals provide appropriate care and support.