Conditions / Syndrome
growth hormone insensitivity syndrome with immune dysregulation 1
info · Syndrome
A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21.
Signs and symptoms
- Severe short stature
- Lymphocytic interstitial pneumonia
- Respiratory distress
- Failure to thrive
- Prominent forehead
- Concave nasal ridge
- Decreased response to growth hormone stimulation test
- Abnormally high-pitched voice