Boys and girls may have kidney or urinary tract abnormalities, especially reflux. The ears may be soft due to floppy cartilage. Keeping a hearing aid in place is often difficult. The hearing loss can be difficult to evaluate due to frequent ear infections, presence of other medical conditions, and general difficulty of testing. Many children have additional conductive losses due to frequent ear infections.
Many children also have difficulty with balance.
Many have weak upper body strength. Some are difficult to sedate for testing. There are rare reports of multiple affected individuals in a family. The risk of an affected individual having an affected child may be much higher. It is probably very underdiagnosed.