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262
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ear disorders
- ... roof of the mouth (high-arched palate) and ear abnormalities may also occur. These features may be mild and not recognized in some affected individuals. The prevalence of this disorder is estimated to be 1 in 7,500 ...
- ... ID commonly get infections in the lungs (pneumonia), ears (otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and gastrointestinal tract. Approximately one quarter of individuals with EDA-ID have disorders involving abnormal inflammation, such as inflammatory bowel disease ...
- ... in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Many affected individuals also have features similar to autism spectrum disorder, a developmental condition that affects communication and social ...
- ... begin to show signs and symptoms of the disorder during early childhood. Early signs and symptoms of MPS III can include frequent ear and throat infections or bowel problems, though most ...
- ... head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue. The skeletal abnormalities that can occur in this disorder include reduced bone density (osteopenia), thickening of the ...
- ... the nose and mouth (philtrum); and cup-shaped ears. Males with Renpenning syndrome generally have small testes. Seizures and wasting away (atrophy) of muscles used for movement (skeletal muscles) may also occur in this disorder.About 20 percent of individuals with Renpenning syndrome ...
- ... hearing loss caused by changes in the inner ear (sensorineural hearing loss), weak muscle tone (hypotonia), impaired muscle coordination (ataxia), and developmental delay. PRS superactivity is believed to be a rare disorder. Approximately 30 families with the condition have been ...
- ... of the uterus and vagina (CAUV) Genital renal ear syndrome (GRES) MRKH syndrome Mullerian agenesis Mullerian aplasia Mullerian dysgenesis ... ClinicalTrials.gov MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME; ...
- ... dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in tiny bones in the ears (ossicles), problems in the development of the roof ...
- ... individuals may also have hearing loss and recurrent ear infections.Some individuals with MPS I have short stature and joint deformities (contractures) that affect mobility. Most people with the severe form of the disorder also have dysostosis multiplex, which refers to multiple ...
