Sam's syndrome, more accurately known as SAMS, is a rare genetic disorder.
Understanding SAMS
SAMS is an acronym that stands for Short stature, Auditory-canal atresia, Mandibular hypoplasia, and Skeletal abnormalities. This syndrome is considered a unique neurocristopathy, meaning it's a condition arising from issues with the neural crest during development. The underlying cause is mutations in the Goosecoid gene.
Key Features of SAMS:
Here are the primary characteristics that define SAMS:
- Short stature: Individuals with SAMS are typically shorter than average for their age.
- Auditory-canal atresia: This refers to the absence or abnormal narrowing of the ear canal. This often leads to hearing loss or difficulties.
- Mandibular hypoplasia: This describes an underdevelopment of the lower jaw (mandible), which can impact facial appearance and sometimes cause feeding or dental problems.
- Skeletal Abnormalities: Individuals can present with different skeletal abnormalities.
Genetic Cause
SAMS is caused by mutations in the Goosecoid gene. This gene is crucial for normal development, especially in early embryogenesis. Mutations disrupt the proper formation of tissues and organs.
Summary
SAMS is not just one symptom, it is a syndrome that encompasses a combination of different issues that result from specific genetic mutations and it's important to understand this as a whole in its diagnosis.
