The participant’s parents began to have concerns about her development when she stopped babbling at 3 months. She started to have different eye movements around 6 months and, when she began walking at 18 months, she walked differently (ataxic gait). She was treated with rituximab, IVIG, and ACTH, which helped … read more
Starting in early childhood, the participant experienced chronic diarrhea with excess fat in his stool (steatorrhea), fragile and sagging skin (cutis laxa), and poor wound healing. At 11 years old, a heart murmur was detected. Later in life, the participant was diagnosed with atrial fibrillation and heart muscle disease (cardiomyopathy). … read more
Shortly after birth, it was noticed that the participant had a large indentation of the skin on his lower back (sacral dimple) and large spaces between the bones of his skull (large fontanelles), but ultrasounds of the spine and head were normal. He was also found to have abnormal breathing … read more
New participant page (068) describes an 8 year old girl with seizures, weekly episodes of confusion and hallucination, ataxia, tremor, ulcerative colitis, pancreatitis, and developmental delay https://t.co/OTIFk3TKR3 #RareDisease
ICYMI: the first @biorxiv_genetic paper from the UDN Model Organisms Screening Center https://t.co/fd9YixJuTz #biorxiv_genetic #biorxiv
UDN investigator Ashok Balasubramanyam from @bcmhouston speaking tomorrow at #AACE2018 about his work with undiagnosed conditions
New UDN manuscript out this week - great example of collaboration between clinicians and researchers from @bcmhouston @DukeHealth
@Columbia @UCLAHealth @ChildrensPgh @seattlechildren GhentUniversityHospital #IRF2BPL #RareDisease
Loss-of-function in IRF2BPL is associated with neurological phenotypes https://t.co/bhPy0083XS #biorxiv_genetic
Participant 068’s parents began to have concerns about her development when she stopped babbling at 3 months. She started to have different eye movements around 6 months and, when she began walking at 18 months, she walked differently (ataxic gait). She was treated with rituximab, IVIG, and ACTH, which helped her ataxia, but her different eye movements, tremor, and unsteadiness remained. She also struggled with learning how to talk. Talking continues to be difficult for her.
The participant had her first seizure (generalized tonic clonic) at 14 months. Her seizures improved after being put on valproic acid. A year later, she started having diarrhea and weight loss and was diagnosed with ulcerative colitis. Soon after, she had daily abdominal pain with episodes of pancreas inflammation (pancreatitis). At the age of 5, she had an episode where she was very confused and unable to recognize her immediate family members. During this episode, she also stumbled and was uncoordinated. These episodes have continued and she currently has them about every week.
Take a look at her page and please let us know if you know someone with similar symptoms!
In case you missed it: hear from UDN investigators David Goldstein, Vandana Shashi, and Bret Bostwick as well as our friends at MyGene2 in this article by Amanda Keener for The Scientist's special issue on rare diseases.
Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.
Shortly after birth, it was noticed that UDN Participant 067 had a large indentation of the skin on his lower back (sacral dimple) and large spaces between the bones of his skull (large fontanelles). He was also found to have abnormal breathing (stridor) and required surgery at 4 months to correct this. After surgery, he had weak cartilage in the walls of his larynx (laryngomalacia) and developed difficulty breathing while sleeping (sleep apnea) at 7 months. He started walking at 18 months, but was unstable and would walk on his toes. Currently he can walk short distances, but tires easily.
Please take a look at his page and let us know if you know someone with similar symptoms!
Male, age 7 with global developmental delay, lack of coordinated movement (dysmetria), toe walking, right sided weakness, right hearing impairment, and weak cartilage in the walls of the larynx (laryngomalacia). Looking for similar patients!
New UDN Participant Page (066) describes an 11 year old girl diagnosed with Wieacker-Wolff syndrome caused by a Xq11.2 deletion. Click the photo below to review her page and learn more about this rare genetic condition.
Female, age 11 diagnosed with Wieacker-Wolff syndrome caused by a Xq11.2 deletion.
UDN Participant 065 was healthy and developing normally until age 3. At this time, his parents noticed that he was walking with a waddling gait. Since then, he has had difficulty climbing stairs, running, and getting up from a squatted position. He also has an irregular heartbeat and experiences difficulty breathing. Some of his other symptoms include low muscle tone, muscle weakness, scoliosis, poor appetite, and elevated levels of creatine phosphokinase in the blood. Please take a moment to review his page and contact us if you know someone with similar symptoms.
Undiagnosed male, age 7 with a neuromuscular disorder. Looking for similar patients!
