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 don’t hesitate to take this chance to show all the visitors your medical history and photos. Many of the specialists who visit the UDNI’s website work all day long to solve the undiagnosed diseases and perhaps one of them find your child’s story like one of the doctor’s patient. If so, he will become interested and will contact you or your doctor at the UDP. We can’t 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.


Results: 44

Participant 144

Participant 144

July 5, 2020

Hirschsprung disease, microcephaly, intellectual disability, speech delay, behavioral issues, sensory and self regulation issues, low tone, poor …

Participant 143

Participant 143

July 4, 2020

Arthrogryposis multiplex congenita (multiple contractures) including clubfeet, spina bifida (sacral), congenital hypotonia, congenital scoliosis, …

Participant 141

Participant 141

July 2, 2020

F has developmental delays. There is still no explanation for the developmental delays, and whether or not the different types of delays are …

Participant 138

Participant 138

April 30, 2020

Intellectual disability, weakness of neck flexors and distal flexors of fingers. Neuromuscular disease, problems regulating muscle tone. Most likely …

Participant 137

Participant 137

April 29, 2020

Total sclerocornea, microcornea, microphtalmia, wolff-parkinson-white syndrome, asymmetrical brain development, macrocephaly, hypotonia, pulmonary …

Participant 136

Participant 136

April 28, 2020

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

Participant 135

Participant 135

April 27, 2020

Developmental delay, epilepsy, respiratory tract problems

Participant 133

Participant 133

April 25, 2020

This 31-year-old woman was born of a consanguineous marriage and was seen for pain in distal limbs and walking difficulty.