Orpha Number: 2318
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Apnea | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Cerebellar vermis hypoplasia | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Molar tooth sign on |
Very frequent (present in 80%-99% of cases) |
| Muscular |
Very frequent (present in 80%-99% of cases) |
| Nephropathy | Very frequent (present in 80%-99% of cases) |
| Retinal dystrophy | Very frequent (present in 80%-99% of cases) |
| Tachypnea | Very frequent (present in 80%-99% of cases) |
| Autistic behavior | Frequent (present in 30%-79% of cases) |
| Biparietal narrowing | Frequent (present in 30%-79% of cases) |
| Blindness | Frequent (present in 30%-79% of cases) |
| Chorioretinal coloboma | Frequent (present in 30%-79% of cases) |
| Iris coloboma | Frequent (present in 30%-79% of cases) |
| Long face | Frequent (present in 30%-79% of cases) |
| Low-set, posteriorly rotated ears | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Frequent (present in 30%-79% of cases) |
|
| Abnormality of cardiovascular system morphology | Occasional (present in 5%-29% of cases) |
| Abnormality of neuronal migration | Occasional (present in 5%-29% of cases) |
| Abnormality of the hypothalamus-pituitary axis | Occasional (present in 5%-29% of cases) |
| Aganglionic megacolon | Occasional (present in 5%-29% of cases) |
| Anteverted nares | Occasional (present in 5%-29% of cases) |
| Aplasia/Hypoplasia of the |
Occasional (present in 5%-29% of cases) |
| Encephalocele | Occasional (present in 5%-29% of cases) |
| Foot |
Occasional (present in 5%-29% of cases) |
| Hand polydactyly | Occasional (present in 5%-29% of cases) |
| Highly arched eyebrow | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Prominent nasal bridge | Occasional (present in 5%-29% of cases) |
| Renal insufficiency | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Occasional (present in 5%-29% of cases) |
|
| Occasional (present in 5%-29% of cases) |
|
| Agenesis of cerebellar vermis | - |
| Aplasia/Hypoplasia of the cerebellar vermis | - |
| - | |
| Brainstem dysplasia | - |
| Dilated fourth ventricle | - |
| Dyspnea | - |
| Hepatic fibrosis | - |
| Hepatic steatosis | - |
| Hepatomegaly | - |
| Heterotopia | - |
| Hypoplasia of the brainstem | - |
| Intellectual disability, progressive | - |
| Intellectual disability, severe | - |
| Nephronophthisis | - |
| Occipital meningocele | - |
| Polycystic kidney dysplasia | - |
| Postaxial foot polydactyly | - |
| Postaxial hand polydactyly | - |
| Renal corticomedullary cysts | - |
| Stage 5 chronic |
- |
| Tubular atrophy | - |
| Tubulointerstitial fibrosis | - |
| Undetectable electroretinogram | - |
| Wide mouth | - |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Gordon Research Conference (GRC): Cilia, Mucus and Mucociliary Interactions
Sunday, February 8, 2015 -
Friday, February 13, 2015
Location: Hotel Galvez,
Galveston,
TX
Description: The aims of the meeting are three fold: (1) To disseminate, discuss and integrate cutting-edge data related to progress in cilia, mucus and mucociliary interactions in a forum of world experts and young scientists. Each area will embrace advances in fundamental cell and molecular biology, development, novel imaging techniques, new animal models, and genetic discovery. Attendees will be able to use this information to improve their own understanding to advance their own work, teaching and to be stimulated for new discoveries in these areas. (2) To provide a forum that will link fundamental scientific knowledge related to cilia, mucus, and mucociliary interactions to human disease and avenues for diagnosis and therapies. Thereby, drive new collaborations, technologies and interactions among basic, translational, and clinical researchers related to gene function in diseases of cilia, mucins, mucosal immunity, disease diagnosis and treatment. (3) To promote involvement and advancement of trainees, women and under-represented groups in the study of cilia, mucus and mucociliary interactions. To assure a strong and equitable representation of women, minorities, young investigators (junior faculty, pre-doctoral, post-doctoral trainees) and those with disabilities through sound proactive planning and organization, we will invite and feature young investigators and trainees. The meeting format is designed to enhance the interaction of trainees and senior investigators.
Contact: Robert A. Smith, Ph.D.,(301) 435-0202, robert.smith4@nih.gov
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
2011 Cilia, Mucus & Mucociliary Interactions Gordon Research Conference
Sunday, February 13, 2011 -
Friday, February 18, 2011
Location:
Ventura,
CA
Description: By tradition, the work presented at a Gordon Research Conference (GRC) is expected to be at the frontiers of science and unpublished to ensure presentation of the most recent and novel data. This format allows presentation of the most recent “hottest” findings. No publication is permitted from these proceedings as per GRC guidelines.
Contact:
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
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