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: 48

Thelma is Undiagnosed

Thelma

April 10, 2021

Feeding problems and has a gastrostomy button; she has extremely low muscle tone, and is not able to eat herself. Her breathing during the nights is …

Edwin is Undiagnosed

Edwin

April 9, 2021

Spasms in arms and legs, is very stiff. Involentary movements, he can not sit or move. He is having difficult to grip things, harder with the left …

Stella is Undiagnosed

Stella

April 8, 2021

Born premature week 35 with duodenal atresia and urinary reflux. She has major development delays, intellectual (learning, communication, speech, …

Astor is Undiagnosed

Astor

February 13, 2021

Tracheomalacia, have had mucus plugs in the lungs. Bilateral retentio testis. Inguinal hernia. Atrial septal defect (membrane in the left atrium). …

Ned is undiagnosed

Ned

July 5, 2020

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

Participant 143

Marc

July 4, 2020

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

Participant 142

Jinn

July 3, 2020

Mild intellectual disability

Participant 141

Fenna

July 2, 2020

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

Participant 140

Dex

July 1, 2020

Developmental delay, autism spectrum disorder

Participant 139

Jonne

May 1, 2020

Developmental delay of unknown cause

Participant 138

Maudy

April 30, 2020

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

Participant 137

Fleur

April 29, 2020

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