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) |
| Abnormal pelvis bone ossification | Very frequent (present in 80%-99% of cases) |
| Abnormality of epiphysis morphology | Very frequent (present in 80%-99% of cases) |
| Abnormality of the clavicle | Very frequent (present in 80%-99% of cases) |
| Abnormality of the fingernails | Very frequent (present in 80%-99% of cases) |
| Abnormality of the vertebrae | Very frequent (present in 80%-99% of cases) |
| Brachycephaly | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Delayed eruption of teeth | Very frequent (present in 80%-99% of cases) |
| Frontal bossing | Very frequent (present in 80%-99% of cases) |
| High forehead | Very frequent (present in 80%-99% of cases) |
| Malar flattening | Very frequent (present in 80%-99% of cases) |
| Midface retrusion | Very frequent (present in 80%-99% of cases) |
| Narrow palate | Very frequent (present in 80%-99% of cases) |
| Osteolysis | Very frequent (present in 80%-99% of cases) |
| Persistent open anterior fontanelle | Very frequent (present in 80%-99% of cases) |
| Recurrent fractures | Very frequent (present in 80%-99% of cases) |
| Short distal phalanx of finger | Very frequent (present in 80%-99% of cases) |
| Short toe | Very frequent (present in 80%-99% of cases) |
| Skeletal dysplasia | Very frequent (present in 80%-99% of cases) |
| Abnormality of dental morphology | Frequent (present in 30%-79% of cases) |
| Blue sclerae | Frequent (present in 30%-79% of cases) |
| Bone pain | Frequent (present in 30%-79% of cases) |
| Proptosis | Frequent (present in 30%-79% of cases) |
| Ridged nail | Frequent (present in 30%-79% of cases) |
| Wormian bones | Frequent (present in 30%-79% of cases) |
| Abnormal pattern of respiration | Occasional (present in 5%-29% of cases) |
| Abnormality of the skin | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Cognitive impairment | Occasional (present in 5%-29% of cases) |
| Hepatomegaly | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Hyperlordosis | Occasional (present in 5%-29% of cases) |
| Kyphosis | Occasional (present in 5%-29% of cases) |
| Narrow chest | Occasional (present in 5%-29% of cases) |
| Osteomyelitis | Occasional (present in 5%-29% of cases) |
| Splenomegaly | Occasional (present in 5%-29% of cases) |
| Abnormality of |
- |
| Abnormality of the thorax | - |
| Absent frontal sinuses | - |
| - | |
| Carious teeth | - |
| Delayed eruption of permanent teeth | - |
| Delayed eruption of primary teeth | - |
| Hypodontia | - |
| Increased bone mineral density | - |
| - | |
| Osteolytic defects of the distal phalanges of the hand | - |
| Persistence of primary teeth | - |
| Prominent nose | - |
| Prominent occiput | - |
| - | |
| Spondylolisthesis | - |
| Spondylolysis | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis
Sunday, June 15, 2014 -
Friday, June 20, 2014
Location: Proctor Academy,
Andover,
NH
Description: The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.
Contact: Alexandra Ainsztein, Ph.D.(301) 594-0828, Alexandra.Ainsztein@nih.gov
Co-funding Institute(s): National Institute of General Medical Sciences, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
