Sougoulé
She presented at age 1 month with recurrent episodes of diarrheaa and dyspnea. Parents noted axial hypotonia followed by a psychomotor delay (sat at …
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.
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: 52
Boubacar
He is a 20-year-old young man born of a consanguineous marriage, who was seen in clinic for walking difficulties and limb/joint deformities. The …
Alfousseyni
This 25-year-old man was seen for multiple joint contractures. He presented at age 3 wtih a swelling on his forehead that disappeared soon after. …
Djeneba
She presented in clinic for difficulty with walking and stiff legs. Medical history includes normal pregnancy and birth, and delay in sitting. She …
Meridié
He presented at age 2 years with problems with walking. These included a waddling gait and a right sided limp, such that he could no longer run with …
Bakary
He presented at around age 14 years with frequent falls when walking and difficulty with running, which led him to stop playing sports.
Asmao
She was referred by her cardiologist because of her tall stature and some finger deformity. She had eye surgery in childhood and was seen by a …
Abdramane
He presented at age 6 years, with difficulty with walking and frequent falls, as well as difficulty standing from a seated position or lifting …
Mahamadou
At age 18 months, parents noticed that he fell frequently when walking. Later, he had difficulty standing up, and recently also lifting heavy objects.
Abdoulaye
Symptoms started around 1 year of age when parents noticed that the patient was walking on his toes. Gait was abnormal, and has was able to run only …
Simbo
Symptoms started at 2 days of age, and were characterized by tonic-clonic seizures and respiratory distress requiring hospitalization.
Sinaly
Symptoms started at 3 days of age, with respiratory distress requiring hospitalization for 9 days, followed a month later by seizures with eye …