Conditions / Genetic
chromosome 16q22 deletion syndrome
info ยท Genetic
A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontan
A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.
Signs and symptoms
- Failure to thrive
- Global developmental delay
- High forehead
- Growth delay
- Cryptorchidism
- Hypotonia
- Micrognathia
- Low-set ears
- Wide anterior fontanel
- Broad hallux