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Patients area

The UDNI together with the Wilhelm Foundation will offer undiagnosed patients (adults and children), who have been evaluated at an UDP and still are undiagnosed to share your story.

This is a tiny opportunity to a diagnosis. But if you still are undiagnosed donít hesitate to take this chance to show all the visitors your medical history and photos. Many of the specialists who visit the UDNIís website work all day long to solve the undiagnosed diseases and perhaps one of them find your childís story like one of the doctorís patient. If so, he will become interested and will contact you or your doctor at the UDP. We canít promise anything, but this is a new chance to a diagnosis.

This area is under the Wilhelm Foundation responsibility. In this section Wilhelm Foundation will collect some information (phenotypic, genotypic, picture) from undiagnosed rare patients.
For this purpose a dedicated ethics-Informed Assent as well as a UDNI Parental Consent were developed and apporved during the 6th Conference of Undiagnosed Diseases Network International (19-21 June 2018, Naples) by all UDNI Board Members and participants. Before adding information on a patient these consents have to be download and signed by the Responsibles of patient.

Patients must have undergone a specific visit in a dedicated undiagnosed clinical site before being added in the present section.

  • Participant 144

    Participant 144

    Hirschsprung disease, microcephaly, intellectual disability, speech delay, behavioral issues, sensory and self regulation issues, low tone, poor bladder and bowel control, slow growth.

  • Participant 143

    Participant 143

    Arthrogryposis multiplex congenita (multiple contractures) including clubfeet, spina bifida (sacral), congenital hypotonia, congenital scoliosis, obstructive sleep apnea requiring non-invasive ventilation at night, constipation...

  • Participant 141

    Participant 141

    F has developmental delays. There is still no explanation for the developmental delays, and whether or not the different types of delays are connected. For these reasons, further genetic research is ongoing at Radboud-umc (genome sequencing)

  • Participant 138

    Participant 138

    Intellectual disability, weakness of neck flexors and distal flexors of fingers. Neuromuscular disease, problems regulating muscle tone. Most likely congenital myopathy with weakness of respiratory muscles.

  • Participant 137

    Participant 137

    Total sclerocornea, microcornea, microphtalmia, wolff-parkinson-white syndrome, asymmetrical brain development, macrocephaly, hypotonia, pulmonary emphysema middle lobe of right lung reqruiting surgical removal

  • Participant 136

    Participant 136

    Developmental delay, concern for developmental coordination disorder (DCD), fatigue, food intolerances (wheat, spelt, peanuts)

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