chromosome 6q11-q14 deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial

A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate.

Signs and symptoms

• Long philtrum
• Hypotonia
• Smooth philtrum
• Thin upper lip vermilion
• High palate
• Pes planus
• Feeding difficulties
• Joint hypermobility
• Global developmental delay
• Short neck